Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome Richard W. Herrle, MD, James A. Katowitz, MD, Terri L. Young, MD, Graham E. Quinn, MD, Martha G. Farber, MD
T
he authors report four cases of the rarest form of the congenital fibrosis syndrome. This disorder is exhibited in infancy as unilateral blepharoptosis, strabismus, limited ductions, globe displacement (enophthalmos and blepharoptosis), and decreased viSion, usually due to amblyopia. Forced ductions are positive and surgical exploration confirms anomalous muscle structure. Computed tomography and magnetic resonance imaging studies in these four patients were diagnostically beneficial, showing extraocular muscle and tendinous insertion involvement, and poorly defined intraconal and extraconal masses that had the appearance of scar or inflammatory tissue. All patients had globe displacement. The opposite eye and intracranial contents were normal in all of our patients. Results of histopathologic examination obtained at surgery in three of these patients show replacement of affected structures by fibrous tissue and included the extraocular muscles, orbital fat, Tenon's capsule, and conjunctiva. Ophthalmology 1992; 99:347-355
Congenital fibrosis of the extraocular muscle was first described by Aebli 1 in 1933. From 1950 to 1978, Brown,2 Hansen, 3 and Harley et al4 described and further classified the different clinical manifestations and hereditary implications of the various subtypes. The common pathology is the infiltration of fibrous tissue within the normal orbital structures. The extraocular muscles are almost uniformly affected. The clinical entities that result from this process can be classified under five types: (1) general fibrosis syndrome; (2) fibrosis of the inferior rectus with blepharophimosis; (3) strabismus fixus; (4) vertical retraction syndrome; and (5) unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. The latter is the rarest form, with the first four cases reported in 1972 by Leone and Weinstein. 5 Harley
Originally received: September 4, 1991. Revision accepted: October 31, 1991. From the Children's Hospital of Philadelphia and The Scheie Eye Institute, Department of Ophthalmology, The University of Pennsylvania, Philadelphia. Reprint requests to Richard W. Hertle, MD, Ophthalmology, The Children's Hospital of Philadelphia, 34th St & Civic Center Blvd, Philadelphia, PA 19104.
et al4 reported another case in 1978, and Effron et al 6 reported three cases in 1985. Although no cause has been found for this orbital abnormality, Effron et al 6 suggest an inflammatory episode from prenatal orbital penetration. We report four additional cases of congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. In an effort to characterize this entity further, the clinical presentation and response to treatment and radiologic and histopathologic studies are reported.
Selected Case Reports Table I presents the clinical findings of the 12 reported patients with unilateral fibrosis, blepharoptosis, and enophthalmos. Patients I through 4 are included in this report. Patient 1. Patient 1 was taken to another institution at 3 months of age and a diagnosis of a congenital cleft and microphthalmos of the left eye was made. She was delivered after an uncomplicated pregnancy and weighed 7 Ib 8 oz. The mother reported transient "swelling" of the eyelids perinatally, which was worse on the left. Results of examination made at that time while the patient was under anesthesia showed corneal diameters of 11.0 mm in both eyes; axial lengths were 18.52 mm in the
347
l..N
"&
Enophthalmos OS Blepharoptosis OS
RET Immobile
20/600 TAC 20/2400 TAC
8mos/M
4
(+) 2.oo0D (+) .75 (+) 3.00
Enophthalmos OS Blepharoptosis OS Palpable mass OS
LET Restricted OS
20/ 300D 20/ 60 OS
3 yrs/F
3
X 700D (+) 4.00 OS
(+) 4.50 (+) 1.50
X 150 OS
X 100 OS
(+) 1.25 OD (+) .75 (+) 3.00
Enophthalmos OS Blepharoptosis OS
LET Restricted OS
CSMOD CSMOS
X 180 OS
(+) 1.50 OD (+) 6.00 (+) 2.00
Enophthalmos OS Blepharoptosis OS Scar lower lid OS
Refraction
Orbit
LHT Immobile
Strabismus
20/200D 20/3000 OS
Visual Acuity
18 mos/ M
5.5 yrs/F
Age/Sex
2
Case No. Three-dimensional CT enophthalmos OS Thickened EOMs periocular soft tissue swelling, harlequin deformity left temporal bone MRI enophthalmos, extraconal mass, and atrophy of the SR OS CT intraconal mass, thickened MR and SR OS MR angiography no flow, globe displacement, enophthalmos, and the soft tissue mass CT Thickened MR OD
Imaging
Table 1. Patient Characteristics
None
Disinsertion MR, SR, andIR OD
LMR Recession LLR Resection
MR disinserted OS
MR OS replaced by fibroconnective tissue OS MR, Tenon's, and subconjunctival space infiltrated and replaced by fibrosis and collagen "bundles"
LIO myotomy Levator resection OS Frontalis sling OS
Treatment
Fibrosis of OS Orbicularis fibrosis of orbital tissues
Pathology
Current series
Current series
Current series
Current series
Reference
\..N
~
10 yrs/M
19 yrs/M
7 yrs/M
8 mos/F
2 wks/F
9 days/F
6 days/M
6
7
8
9
10
11
12
RXT,RHOT Immobile RXT,RHOT Immobile LXT Immobile
None
None
None
Enophthalmos OD Blepharoptosis, scar OD Enophthalmos OD Blepharoptosis, scar OD Enophthalmos OS Blepharoptosis, scar OS (+)3.000D (-) 2.00 (+) 3.00 X 90 OS
(+) 2.50 OD (+) 1.50 OS
(+) 4.00 OD (+) 4.50 OS
None
None
None
Enophthalmos OD Blepharoptosis OD Enophthalmos OD Blepharoptosis OD Enophthalmos OD Blepharoptosis OD
LXT
20/200D 20/400 OS 20/40 OD 20/20 OS "Adequate vision" RXT Immobile RET Immobile
None
Enophthalmos OS Blepharoptosis OS
LET Immobile
20/300D HMOS
(+) 2.50 (+) 1.50 X900S
Blepharoptosis OD
Restricted Ductions OD
20/70 OS
Plain film skull NL Ultrasound MR mass
Plain film skull NL CT scan NL
Plain film skull NL CT scanNL
None
Plain film skull NL
Plain film skull NL
Plain film skull NL
None
Benign mesenchyoma
None
MR replaced by hypocellular connective tissue None
None
None
None
Replaced by collagen
Surgical debulking and recurrence
RIR recession; RSR resection
RLR Recession; RIR recession
Silicone orbital implantOD Unsuccesful MR isolation
Recession occlusion OD; frontalis sling OD LLR Recession; LMR resection; levator resection Levator resection
Effron, Price, Berlin
Effron, Price, Berlin
Effron, Price, Berlin
Leone, Weinstein
Leone, Weinstein
Leone, Weinstein
Leone, Weinstein
Harley, Rodrigues
OD = right eye; OS = left eye; LHT = left hypertropia; CT = computed tomography; EOMs = extraocular muscles; LIO = left inferior oblique; CSM = central, steady, and maintained vision; LET = left esotropia; MRI = magnetic resonance imaging; SR = superior rectus; MR = medial rectus; LMR = left medial rectus; LLR = left lateral rectus; TAC = Teller acuity cards; RET = right esotropia; IR = inferior rectus; HM = hand motions; NL = normal; LXT = left exotropia; RXT = right exotropia; RHOT = right hypotropia; RLR = right lateral rectus; RIR = right inferior rectus; RSR = right superior rectus.
4 yrs/F
5
Ophthalmology
Volume 99, Number 3, March 1992 right eye and 18.13 mm in the left. A notch was present along the inferior orbital rim of the left eye, and scarring was noted on the inner aspect of the lower lid. The globe was "frozen" in the orbit in a supraducted position with the pupil hidden under the orbital rim. A temporal limbal peritomy showed a "thin, fibrotic, and atrophic appearing lateral rectus muscle." The superior rectus could not be identified. The patient was first seen at Children's Hospital of Philadelphia in April 6, 1987, at 18 months of age. She had central steady and maintained vision in the right eye and minimal visual behavior in the left. The vertical fissure height was 8 mm in the right eye and 2 mm in the left, and levator function was 10+ mm in the right eye and 5 to 7 mm in the left. There was retrusion and flattening of the periorbita with lateral canthal dystopia in the left eye. The left globe was fixed in at least 20° of supraduction. The right eye was normal while only the superior retina could be viewed in the left. Cycloplegic retinoscopy was + 1.50 in the right eye and +6.00 +2.00 X 180 in the left, which was an off axis refraction. Occlusion of the right eye was attempted and varied from 3 hours a day to full time from 22 months of age to 30 months of age. A second surgical procedure was performed at Children's Hospital of Philadelphia when the patient was 22 months of age and included a left orbital exploration, myotomy of the left inferior oblique, and a left Fasanella-Servat procedure, resulting in improved appearance of the lid and minimal increased mobility of the globe. At 29 months of age, the patient had residual blepharoptosis, immobile supraducted globe, and amblyopia in the left eye. At 30 months of age, patient 1 underwent a left anterior orbitotomy and lateral conjunctivoplasty in an attempt to release orbital and conjunctival restrictions. She was last examined at 31 months of age and had remaining blepharoptosis, a fixed, supraducted globe, and amblyopia with a visual acuity in the left eye of 6/ 18 at 1.5 feet (Fig 1A). Imaging Studies. A three-dimensional computed tomography scan was performed at 22 months of age and showed left enophthalmos and abnormalities in the shape of the extraocular muscles. Another unenhanced axial computed tomography scan was taken at 29 months of age, which showed a small left globe and enophthalmos, soft tissue swelling around the globe, sinus inflammatory disease, and a hypoplastic left temporal bone (Fig IB). Patient 2. Patient 2 was first seen at another institution in September 1989 at 18 months of age. Results of examination showed visual acuity of fixation and following in both eyes. There was blepharoptosis in the left eye with a 4 mm difference in the vertical fissure height. There was severe limitation of supraduction and abduction of the left eye. The right eye was normal and the anterior segment and fundus examination of both eyes were normal. She was seen in consultation at Children's Hospital of Philadelphia at 19 months of age. She weighed 7 lb 4 oz at birth, after a full-term uncomplicated pregnancy. The parent's noticed drooping of the left lid, a "bruised" left eye, and immobility of the left eye at birth. Visual acuity using HOTV testing was 6/15 in the right eye and 6/18 in the left. She had a left enophthalmos and blepharoptosis with vertical fissure heights of9 mm in the right eye and 4 mm in the left and horizontal fissure widths of 23 mm in both eyes. She had a primary position eso-
Figure 1. A, postoperative photograph of case 1 demonstrates enophthalmos, blepharoptosis, and supraduction of the right eye. B, an axial
350
( computed tomography scan shows microphthalmia of the left eye and increased soft tissue in the anterior orbit of the left eye, which appears similar to an infiltrative mass.
Hertle et al . Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome
Figure 2. A, postoperative photograph of case 2 shows enophthalmos and blepharoptosis of the left eye. B, coronal T "weighted magnetic res' ~mance image scan shows an extraconal soft tissue mass and C, atrophic superior and lateral recti muscles.
tropia of 30 prism diopters, which increased to 60 prism diopters in left gaze and a hypotropia of20 diopters (measured by Krimsky) with severe limitations of supraduct ion and abduction. Cycloplegic refraction was + 1 .25 in the right eye and +2.50 + 0.50 X 180 in the left. The remainder of her ocular examination was normal in both eyes. After initial examination at Children's Hospital of Philadelphia, patching of the right eye for 4 hours a day for amblyopia was instituted. The patient was followed without change until 22 months of age, at which time surgery for the esotropia was performed. Operative findings were confined to left orbit and included absence of the left superior rectus muscle and fibrotic medial rectus, lateral rectus, and superior oblique muscles. Positive forced ductions were not relieved by disinsertion of the medial rectus muscle or a superior oblique tenotomy. A hard nonmobile mass could be felt outside the muscle cone and posterior Tenon's capsule in the superonasal orbit. At her most recent postoperative visit, at 23 months of age, she had visual acuity of 6/9 in the right eye and 6/12 in the left with Allen pictures. She had less esotropia and hypotropia in primary position with remaining enophthalmos, blepharoptosis, and limited ductions of the left eye (Fig 2A). Imaging Studies. T,-weighted magnetic resonance imaging (MRI) was first performed after surgery at 22 months of age. Results showed left enophthalmos, an enhancing extraconal soft tissue mass (Fig 2B) consistent with fibrous tissue, and atrophy of the superior and lateral rectus muscles (Fig 2C). Patient 3. Patient 3 was initially seen in consultation at Children's Hospital of Philadelphia at 3 years of age to aid in the treatment of an "orbital varix" in the left orbit. She weighed
351
Ophthalmology
Volume 99, Number 3, March 1992
Figure 3
352
Hertle et al . Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome
Figure 3. A, preoperative photograph of case 3 with the patient fixating with the involved eye shows left upper lid belpharoptosis, enophthalmos, inferior globe displacement, and esotropia. B, CT image scans show inferior displacement of the left globe and an intraconal mass and C, thickening of the left superior, medial, and inferior recti muscles. These muscles are incorporated into an isointense band, which extends superomedially to the superior oblique muscle through the orbital fat. The scan also shows a left intraconal mass which extends to the superior rectus, superior oblique, and medial rectus muscles (D). A Masson's trichrome stain of a specimen obtained at surgery shows loose connective tissue with "curly" fibers surrounding a fibrosed medial rectus muscle bundle. The dark, dense staining material within the bundle (which is red in color photomicrographs) is remaining normal muscle tissue (£) (original magnification,
X40).
11 lb 3 oz at birth, after an uncomplicated pregnancy, labor, and delivery. The parent's noticed drooping and swelling of the left lid at birth, which they said improved over the first few weeks of life. Examination showed visual acuity of 6/9 in the right eye and 6/18 in the left with Allen card pictures. She had an occasional head turn to the left. She had blepharoptosis of the left upper lid with a vertical fissure height of 10 mm in the right eye and 13 mm in the left. The left globe was displaced downward and was enophthalmic. There was a firm nonmobile, nontender mass palpable in the left superoanterior and superonasal orbit. A primary position esotropia of 25 prism diopters increased to 45 prism diopters in left gaze. The left globe had severe limitation of supraduction and moderate limitation of abduction. Her right eye and the remainder of the examination of the left eye were normal. Cycloplegic refraction was +2.00 in the right eye and -0.75 +3.00 X 100 in the left. There was no lid discoloration, orbital pulsation, bruits, or changes with Valsalva maneuvers (Fig 3A). Occlusion of the right eye for 10 to 12 hours a day was instituted. The patient was taken to surgery for exploration, biopsy, and correction of the strabismus. Forced ductions showed severe limitation to abduction and supraduction with moderate limitation to adduction. Disinsertion of the medial rectus minimally increased mobility. All the rectus muscles were thickened and stiff. A lO-mm "hang-back" recession combined with a lO-mm resection of the lateral rectus was performed. Her most recent examination at 42 months of age showed visual acuity to be 6/9 in the right eye and 6/18 in the left with Allen pictures. She had globe blepharoptosis in the left eye with remaining lid blepharoptosis, enophthalmos, and limited supraduction and abduction. She had a 10 prism diopter esotropia by Krimsky testing at distance and near that increased to 45 prism diopters in left gaze and occasionally had fusion with a left head turn. Cycloplegic refraction was + 1. 75 in the right eye
and -1.50 +4.75 X 90 in the left. Spectacles were prescribed along with occlusion of the sound eye. Imaging Studies. Computed tomography and/or MRI studies were performed at 8 months, 16 months, and 37 months of age with minimal differences between them. The MRI performed at 37 months of age included an angiographic sequence to rule out an orbital varix. The imaging studies showed inferior displacement of the left globe, an intraconal mass isointense to the muscle cone (Fig 3B), and thickening of the superior rectus muscle with extension medially to involve the superior oblique muscle, orbital fat, and medial rectus muscle (Figs 3C and D). The optic nerves, chiasm, and intracranial contents were normal. Angiographic sequencing demonstrated no abnormal flow in the orbit, cavernous sinus, or intracranial space. Histopathology. Results of light microscopy of hem at oxylin-eosin-stained specimens submitted at the time of surgery showed striated muscle bundles with dense eosinophilic strands of fibrous tissue containing spindle cells, and bundles of striated muscle tissue surrounded by loose connective tissue containing abundant "curly" filaments. Tenon's capsule showed fibrovascular tissue with fat and many "curly" fibers. Fibrovascular tissue with abundant "curly" bundles of material was present throughout the subconjunctival space. Masson's trichrome stain showed that the muscle bundles were infiltrated with dense fibrosis and very faint, splotchy staining consistent with viable muscle fibers, which were present within the bundles. VierhoffVanGeisen stain was used to investigate the "curly" fibers seen with hematoxylineosin for elastin content. They did not stain and most likely represent bundles of collagen (Fig 3E). Patient 4. Patient 4 was initially seen at another institution at 1 week of age for a complaint of a small right eye. Examination at that institution showed a right blepharoptosis, a narrow palpebral fissure, enophthalmos, and the globe fixed in adduction with severe limitation of ductions. The remainder of the examination of both eyes was normal. The right side of the face was described as "hypoplastic." A-scan ultrasonography showed equal axial lengths in both eyes (Fig 3). Surgery was performed at 3 months of age and revealed severe limitations of ductions in all directions. The fibrotic medial, superior, and inferior recti were detached from the globe. The eye remained adducted and enophthalmic after surgery. Patient 4 was first seen at Children's Hospital of Philadelphia at 8 months of age as part of an evaluation by the Craniofacial Team. The patient was delivered after a full-term, uncomplicated pregnancy, labor, and delivery. The parents noticed the swollen right eye and bruised lids, which precluded a view of the right eye for the first few days after life. Results of examination showed fixation and following movements in both eyes with a slight preference for the right eye. Visual acuity testing with Teller acuity cards showed approximate Snellen equivalents of 20/600 in the right eye and 20/2400 in the left, both below expected acuity for age. His vertical fissure height was 5 mm in the right eye and 9 mm in the left and marginal reflex distances of 1 mm in the right eye and 5 mm in the left. He had 1 mm of levator function in the right eye and greater than 12 mm in the left. Enophthalmos of 4 to 5 mm in the right eye and normal globe position in the left was documented using Hertel exophthalmometry. A primary position right esotropia of 30 prism diopters with Krimsky testing was noted with full rotations in the left eye and severe limitation of ductions in the right. Cycloplegic retinoscopy was +4.50 + 1.50 X 70 and +4.00 in the left eye. The remainder of his ocular examination was normal in both eyes (Fig 4A). Imaging Studies. A computed tomography scan performed at 1 month of age showed right enophthalmos, an intraconal mass involving the medial rectus muscle, and the right
353
Ophthalmology
Volume 99, Number 3, March 1992 eye was adducted and had a slight bony deformity of the left orbit and minimal right plagiocephaly.
Discussion Congenital fibrosis of the extraocular muscles is a rare condition. The five clinical syndromes result from infiltration of the extraocular muscles with fibrous tissue in varying degrees. 4 ,7-9,18,19 The most common is the general fibrosis syndrome, which follows an autosomal dominant inheritance pattern. Blepharoptosis with a chin up position and the eyes fixed in downgaze with limited ductions are noted. The eyes are usually divergent and the nonfixing eye is amblyopic. Many patients have hyperopic astigmatism. 2•4,7 At surgery, one encounters fibrotic, inelastic, atrophic extraocular muscles with occasional absence or anomalous insertions. IO- 13 There is fibrosis of Tenon's capsule and inelasticity and fragility of the conjunctiva. Computed tomographic imaging of extraocular muscles has shown atrophy or thickening of the extraocular muscles. 6 ,14 The congenital fibrosis, blepharoptosis, and enophthalmos syndrome reported here (patients I to 4, Table 1) is the rarest form of the fibrosis syndromes. 5•6,II,15,16 Our cases share the following features with previously reported cases (patients 5 to 12, Table 1). This is a congenital, nonfamilial, unilateral process manifested by blepharoptosis, restricted ductions, and enophthalmos or globe displacement in the affected eye. There is extraocular muscle atrophy, anomaly or absence, and/or infiltration by fibrous tissue, and the affected eye is amblyopic from deprivation, strabismus, and/or ametropia. In seven of the eight patients in whom visual function is known, vision was decreased in at least one eye (Table 1). All patients with reported refractions had significant refractive errors (greater than +2.00 spheres, +0.75 cylinders, or -1.00 spheres). Five patients had anisometropia (greater than 1.50 diopters difference between the two eyes in any meridian). Interestingly, patient 3 had an increased amount of with-the-rule astigmatism occurring postoperatively. This could be due to increased pull of the vertical muscles after release of horizontal forces after muscle surgery. The cause of this form of localized fibrosis is unclear. We can find no reports of systemic conditions with generalized or localized fibrosis occurring at birth. Meyer and Ludatscher l7 reported two cases of associated extraocular muscle fibrosis in patients who underwent enucleation for advanced intraocular malignant melanoma. This was probably the result of contiguous tumor and inflammation in the orbital tissues. In our literature review, four patients had "scars" around the lids that were not due to surgical intervention (Table 1). Effron et al 6 postulate prenatal orbital penetration as a possible cause of this syndrome. ( Figure 4. A, postoperative photograph of case 4 shows right enophthalmos, blepharoptosis, and esotropia. The patient is fixing with his preferred involved eye. B, coronal computed tomography scan shows a right intraconal mass involving the medial rectus muscle and mild hypoplasia of the right orbit and temporal bone.
354
Hertle et al . Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome The lower lid scar in our patient I was representative of a partial clefting syndrome. None of our patients had a history of maternal amniocentesis. All of our patients had histories of perinatal periorbital swelling and ecchymoses. It is difficult to discern whether this was related to perinatal trauma or part of a prenatal inflammatory response remaining at birth. Radiologic studies may be helpful in differentiating this syndrome from thyroid ophthalmopathy, vascular abnormalities, intrinsic tumors, and active inflammation. 14 Plain films of the skull are normal. Computed tomography shows changes in the muscles and the orbit. The globe is both enophthalmic and vertically displaced. Extraocular muscles, including the tendons, are variably involved and thickened, unlike thyroid ophthalmopathy, which spares the tendons and uniformly affects the inferior recti. There may be atrophy, absence, or anomalous insertions of the muscles. There may be a diffusely infiltrating orbital mass which violates anatomic planes and is not primarily either intraconal or extraconal. This lesion has the appearance of inflammatory or fibrous tissue, does not enhance with contrast, and has no flow on MRI angiographic sequencing. In patient 1, there was an associated deformity of the ipsilateral temporal bone. Histopathologic analysis has consistently shown fibrotic infiltration of the extraocular muscles. 9- 12 The normal muscle architecture is atrophic and replaced by fibrous tissue. The presence of "curly" fibers, which probably represent bundles of collagen, was seen in specimens of Tenon's capsule and conjunctiva. This may represent a more diffuse orbital process than what is appreciated clinically. Although treatment of these patients is difficult, visual rehabilitation can be achieved. This is accomplished with occlusion for amblyopia and spectacle correction of refractive errors and anisometropia. Blepharoptosis surgery, which can contribute to visual loss, is difficult in these patients due to an almost complete lack of motility of the globe and lid in the affected eye. The goal of strabismus surgery is to release muscle restrictions and to align the eye as close as possible to straight in primary position. There is little hope of binocular cooperation and normal appearance, but this combined approach to visual and cosmetic rehabilitation can be successful.
References 1. Aebli R. Retraction syndrome. Arch Ophthalmol 1933; 10:
602-10. 2. Brown HW. Congenital structural muscle anomalies. In: Allen JH, ed. Strabismus Ophthalmic Symposium 1. St. Louis: CV Mosby 1950; 205-36. 3. Hansen E. Congenital general fibrosis of the extraocular muscles. Acta Ophthalmol1968; 46:469-76. 4. Harley RD, Rodrigues MM, Crawford JS. Congenital fibrosis of the extraocular muscles. Trans Am Ophthalmol Soc 1978; 76: 197-226. 5. Leone CR Jr, Weinstein GW. Orbital fibrosis with enophthalmos. Ophthalmic Surg 1972; 3:71-5. 6. Effron L, Price RL, Berlin AJ. Congenital unilateral orbital fibrosis with suspected prenatal orbital penetration. J Pediatr Ophthalmol Strab 1985; 22:133-6. 7. Villaseca A. Strabismus fixus. Am J Ophthalmol1959; 48: 751-62. 8. Laughlin RC. Congenital fibrosis of the extraocular muscles. Am J Ophthalmol1956; 41:432-8. 9. Kuwabara T, Cogan DG, Johnson Cc. Structures of the muscles of the upper eyelid. Arch Ophthalmol 1975; 93: 1189-97. 10. Crawford JS. Congenital fibrosis syndrome. Can J Ophthalmol 1970; 5:331-6. 11. Harley RD, Rodrigues MM, Crawford JS. Congenital fibrosis of the extraocular muscles. J Pediatr Ophthalmol Strabismus 1978; 15:346-58. 12. von Noorden GK. Congenital hereditary ptosis with inferior rectus fibrosis. Report of two cases. Arch Ophthalmol 1970; 83:378-80. 13. Apt L, Axelrod RN. Generalized fibrosis of the extraocular muscles. Am J Ophthalmol 1978; 85:822-9. 14. Hupp SL, Williams JP, Curran JE. Computerized tomography in the diagnosis of the congenital fibrosis syndrome. J Clin Neuro Ophthalmol 1990; 10:135-9. 15. Parks MM. Ocular Motility and Strabismus. Hagerstown MD: Harper & Row, 1975; 170-2. 16. Prakash P, Menon V, Ghosh G. Congenital fibrosis of superior rectus and superior oblique: a case report. Br J Ophthalmol 1985; 69:57-9. 17. Meyer E, Ludatscher RM. Massive fibrosis of extraocular muscles related to intraocular tumor. Ophthalmologica 1990; 200: 198-202. 18. Khodadoust AA, von Noorden GK. Bilateral vertical retraction syndrome. Arch Ophthalmol 1967; 78:606-12. 19. Pesando P, Nuzzi G, Maraini G. Vertical retraction syndrome. Ophthalmologica 1978; 177:254-9.
355
T
he authors report four cases of the rarest form of the congenital fibrosis syndrome. This disorder is exhibited in infancy as unilateral blepharoptosis, strabismus, limited ductions, globe displacement (enophthalmos and blepharoptosis), and decreased viSion, usually due to amblyopia. Forced ductions are positive and surgical exploration confirms anomalous muscle structure. Computed tomography and magnetic resonance imaging studies in these four patients were diagnostically beneficial, showing extraocular muscle and tendinous insertion involvement, and poorly defined intraconal and extraconal masses that had the appearance of scar or inflammatory tissue. All patients had globe displacement. The opposite eye and intracranial contents were normal in all of our patients. Results of histopathologic examination obtained at surgery in three of these patients show replacement of affected structures by fibrous tissue and included the extraocular muscles, orbital fat, Tenon's capsule, and conjunctiva. Ophthalmology 1992; 99:347-355
Congenital fibrosis of the extraocular muscle was first described by Aebli 1 in 1933. From 1950 to 1978, Brown,2 Hansen, 3 and Harley et al4 described and further classified the different clinical manifestations and hereditary implications of the various subtypes. The common pathology is the infiltration of fibrous tissue within the normal orbital structures. The extraocular muscles are almost uniformly affected. The clinical entities that result from this process can be classified under five types: (1) general fibrosis syndrome; (2) fibrosis of the inferior rectus with blepharophimosis; (3) strabismus fixus; (4) vertical retraction syndrome; and (5) unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. The latter is the rarest form, with the first four cases reported in 1972 by Leone and Weinstein. 5 Harley
Originally received: September 4, 1991. Revision accepted: October 31, 1991. From the Children's Hospital of Philadelphia and The Scheie Eye Institute, Department of Ophthalmology, The University of Pennsylvania, Philadelphia. Reprint requests to Richard W. Hertle, MD, Ophthalmology, The Children's Hospital of Philadelphia, 34th St & Civic Center Blvd, Philadelphia, PA 19104.
et al4 reported another case in 1978, and Effron et al 6 reported three cases in 1985. Although no cause has been found for this orbital abnormality, Effron et al 6 suggest an inflammatory episode from prenatal orbital penetration. We report four additional cases of congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. In an effort to characterize this entity further, the clinical presentation and response to treatment and radiologic and histopathologic studies are reported.
Selected Case Reports Table I presents the clinical findings of the 12 reported patients with unilateral fibrosis, blepharoptosis, and enophthalmos. Patients I through 4 are included in this report. Patient 1. Patient 1 was taken to another institution at 3 months of age and a diagnosis of a congenital cleft and microphthalmos of the left eye was made. She was delivered after an uncomplicated pregnancy and weighed 7 Ib 8 oz. The mother reported transient "swelling" of the eyelids perinatally, which was worse on the left. Results of examination made at that time while the patient was under anesthesia showed corneal diameters of 11.0 mm in both eyes; axial lengths were 18.52 mm in the
347
l..N
"&
Enophthalmos OS Blepharoptosis OS
RET Immobile
20/600 TAC 20/2400 TAC
8mos/M
4
(+) 2.oo0D (+) .75 (+) 3.00
Enophthalmos OS Blepharoptosis OS Palpable mass OS
LET Restricted OS
20/ 300D 20/ 60 OS
3 yrs/F
3
X 700D (+) 4.00 OS
(+) 4.50 (+) 1.50
X 150 OS
X 100 OS
(+) 1.25 OD (+) .75 (+) 3.00
Enophthalmos OS Blepharoptosis OS
LET Restricted OS
CSMOD CSMOS
X 180 OS
(+) 1.50 OD (+) 6.00 (+) 2.00
Enophthalmos OS Blepharoptosis OS Scar lower lid OS
Refraction
Orbit
LHT Immobile
Strabismus
20/200D 20/3000 OS
Visual Acuity
18 mos/ M
5.5 yrs/F
Age/Sex
2
Case No. Three-dimensional CT enophthalmos OS Thickened EOMs periocular soft tissue swelling, harlequin deformity left temporal bone MRI enophthalmos, extraconal mass, and atrophy of the SR OS CT intraconal mass, thickened MR and SR OS MR angiography no flow, globe displacement, enophthalmos, and the soft tissue mass CT Thickened MR OD
Imaging
Table 1. Patient Characteristics
None
Disinsertion MR, SR, andIR OD
LMR Recession LLR Resection
MR disinserted OS
MR OS replaced by fibroconnective tissue OS MR, Tenon's, and subconjunctival space infiltrated and replaced by fibrosis and collagen "bundles"
LIO myotomy Levator resection OS Frontalis sling OS
Treatment
Fibrosis of OS Orbicularis fibrosis of orbital tissues
Pathology
Current series
Current series
Current series
Current series
Reference
\..N
~
10 yrs/M
19 yrs/M
7 yrs/M
8 mos/F
2 wks/F
9 days/F
6 days/M
6
7
8
9
10
11
12
RXT,RHOT Immobile RXT,RHOT Immobile LXT Immobile
None
None
None
Enophthalmos OD Blepharoptosis, scar OD Enophthalmos OD Blepharoptosis, scar OD Enophthalmos OS Blepharoptosis, scar OS (+)3.000D (-) 2.00 (+) 3.00 X 90 OS
(+) 2.50 OD (+) 1.50 OS
(+) 4.00 OD (+) 4.50 OS
None
None
None
Enophthalmos OD Blepharoptosis OD Enophthalmos OD Blepharoptosis OD Enophthalmos OD Blepharoptosis OD
LXT
20/200D 20/400 OS 20/40 OD 20/20 OS "Adequate vision" RXT Immobile RET Immobile
None
Enophthalmos OS Blepharoptosis OS
LET Immobile
20/300D HMOS
(+) 2.50 (+) 1.50 X900S
Blepharoptosis OD
Restricted Ductions OD
20/70 OS
Plain film skull NL Ultrasound MR mass
Plain film skull NL CT scan NL
Plain film skull NL CT scanNL
None
Plain film skull NL
Plain film skull NL
Plain film skull NL
None
Benign mesenchyoma
None
MR replaced by hypocellular connective tissue None
None
None
None
Replaced by collagen
Surgical debulking and recurrence
RIR recession; RSR resection
RLR Recession; RIR recession
Silicone orbital implantOD Unsuccesful MR isolation
Recession occlusion OD; frontalis sling OD LLR Recession; LMR resection; levator resection Levator resection
Effron, Price, Berlin
Effron, Price, Berlin
Effron, Price, Berlin
Leone, Weinstein
Leone, Weinstein
Leone, Weinstein
Leone, Weinstein
Harley, Rodrigues
OD = right eye; OS = left eye; LHT = left hypertropia; CT = computed tomography; EOMs = extraocular muscles; LIO = left inferior oblique; CSM = central, steady, and maintained vision; LET = left esotropia; MRI = magnetic resonance imaging; SR = superior rectus; MR = medial rectus; LMR = left medial rectus; LLR = left lateral rectus; TAC = Teller acuity cards; RET = right esotropia; IR = inferior rectus; HM = hand motions; NL = normal; LXT = left exotropia; RXT = right exotropia; RHOT = right hypotropia; RLR = right lateral rectus; RIR = right inferior rectus; RSR = right superior rectus.
4 yrs/F
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Ophthalmology
Volume 99, Number 3, March 1992 right eye and 18.13 mm in the left. A notch was present along the inferior orbital rim of the left eye, and scarring was noted on the inner aspect of the lower lid. The globe was "frozen" in the orbit in a supraducted position with the pupil hidden under the orbital rim. A temporal limbal peritomy showed a "thin, fibrotic, and atrophic appearing lateral rectus muscle." The superior rectus could not be identified. The patient was first seen at Children's Hospital of Philadelphia in April 6, 1987, at 18 months of age. She had central steady and maintained vision in the right eye and minimal visual behavior in the left. The vertical fissure height was 8 mm in the right eye and 2 mm in the left, and levator function was 10+ mm in the right eye and 5 to 7 mm in the left. There was retrusion and flattening of the periorbita with lateral canthal dystopia in the left eye. The left globe was fixed in at least 20° of supraduction. The right eye was normal while only the superior retina could be viewed in the left. Cycloplegic retinoscopy was + 1.50 in the right eye and +6.00 +2.00 X 180 in the left, which was an off axis refraction. Occlusion of the right eye was attempted and varied from 3 hours a day to full time from 22 months of age to 30 months of age. A second surgical procedure was performed at Children's Hospital of Philadelphia when the patient was 22 months of age and included a left orbital exploration, myotomy of the left inferior oblique, and a left Fasanella-Servat procedure, resulting in improved appearance of the lid and minimal increased mobility of the globe. At 29 months of age, the patient had residual blepharoptosis, immobile supraducted globe, and amblyopia in the left eye. At 30 months of age, patient 1 underwent a left anterior orbitotomy and lateral conjunctivoplasty in an attempt to release orbital and conjunctival restrictions. She was last examined at 31 months of age and had remaining blepharoptosis, a fixed, supraducted globe, and amblyopia with a visual acuity in the left eye of 6/ 18 at 1.5 feet (Fig 1A). Imaging Studies. A three-dimensional computed tomography scan was performed at 22 months of age and showed left enophthalmos and abnormalities in the shape of the extraocular muscles. Another unenhanced axial computed tomography scan was taken at 29 months of age, which showed a small left globe and enophthalmos, soft tissue swelling around the globe, sinus inflammatory disease, and a hypoplastic left temporal bone (Fig IB). Patient 2. Patient 2 was first seen at another institution in September 1989 at 18 months of age. Results of examination showed visual acuity of fixation and following in both eyes. There was blepharoptosis in the left eye with a 4 mm difference in the vertical fissure height. There was severe limitation of supraduction and abduction of the left eye. The right eye was normal and the anterior segment and fundus examination of both eyes were normal. She was seen in consultation at Children's Hospital of Philadelphia at 19 months of age. She weighed 7 lb 4 oz at birth, after a full-term uncomplicated pregnancy. The parent's noticed drooping of the left lid, a "bruised" left eye, and immobility of the left eye at birth. Visual acuity using HOTV testing was 6/15 in the right eye and 6/18 in the left. She had a left enophthalmos and blepharoptosis with vertical fissure heights of9 mm in the right eye and 4 mm in the left and horizontal fissure widths of 23 mm in both eyes. She had a primary position eso-
Figure 1. A, postoperative photograph of case 1 demonstrates enophthalmos, blepharoptosis, and supraduction of the right eye. B, an axial
350
( computed tomography scan shows microphthalmia of the left eye and increased soft tissue in the anterior orbit of the left eye, which appears similar to an infiltrative mass.
Hertle et al . Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome
Figure 2. A, postoperative photograph of case 2 shows enophthalmos and blepharoptosis of the left eye. B, coronal T "weighted magnetic res' ~mance image scan shows an extraconal soft tissue mass and C, atrophic superior and lateral recti muscles.
tropia of 30 prism diopters, which increased to 60 prism diopters in left gaze and a hypotropia of20 diopters (measured by Krimsky) with severe limitations of supraduct ion and abduction. Cycloplegic refraction was + 1 .25 in the right eye and +2.50 + 0.50 X 180 in the left. The remainder of her ocular examination was normal in both eyes. After initial examination at Children's Hospital of Philadelphia, patching of the right eye for 4 hours a day for amblyopia was instituted. The patient was followed without change until 22 months of age, at which time surgery for the esotropia was performed. Operative findings were confined to left orbit and included absence of the left superior rectus muscle and fibrotic medial rectus, lateral rectus, and superior oblique muscles. Positive forced ductions were not relieved by disinsertion of the medial rectus muscle or a superior oblique tenotomy. A hard nonmobile mass could be felt outside the muscle cone and posterior Tenon's capsule in the superonasal orbit. At her most recent postoperative visit, at 23 months of age, she had visual acuity of 6/9 in the right eye and 6/12 in the left with Allen pictures. She had less esotropia and hypotropia in primary position with remaining enophthalmos, blepharoptosis, and limited ductions of the left eye (Fig 2A). Imaging Studies. T,-weighted magnetic resonance imaging (MRI) was first performed after surgery at 22 months of age. Results showed left enophthalmos, an enhancing extraconal soft tissue mass (Fig 2B) consistent with fibrous tissue, and atrophy of the superior and lateral rectus muscles (Fig 2C). Patient 3. Patient 3 was initially seen in consultation at Children's Hospital of Philadelphia at 3 years of age to aid in the treatment of an "orbital varix" in the left orbit. She weighed
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Volume 99, Number 3, March 1992
Figure 3
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Hertle et al . Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome
Figure 3. A, preoperative photograph of case 3 with the patient fixating with the involved eye shows left upper lid belpharoptosis, enophthalmos, inferior globe displacement, and esotropia. B, CT image scans show inferior displacement of the left globe and an intraconal mass and C, thickening of the left superior, medial, and inferior recti muscles. These muscles are incorporated into an isointense band, which extends superomedially to the superior oblique muscle through the orbital fat. The scan also shows a left intraconal mass which extends to the superior rectus, superior oblique, and medial rectus muscles (D). A Masson's trichrome stain of a specimen obtained at surgery shows loose connective tissue with "curly" fibers surrounding a fibrosed medial rectus muscle bundle. The dark, dense staining material within the bundle (which is red in color photomicrographs) is remaining normal muscle tissue (£) (original magnification,
X40).
11 lb 3 oz at birth, after an uncomplicated pregnancy, labor, and delivery. The parent's noticed drooping and swelling of the left lid at birth, which they said improved over the first few weeks of life. Examination showed visual acuity of 6/9 in the right eye and 6/18 in the left with Allen card pictures. She had an occasional head turn to the left. She had blepharoptosis of the left upper lid with a vertical fissure height of 10 mm in the right eye and 13 mm in the left. The left globe was displaced downward and was enophthalmic. There was a firm nonmobile, nontender mass palpable in the left superoanterior and superonasal orbit. A primary position esotropia of 25 prism diopters increased to 45 prism diopters in left gaze. The left globe had severe limitation of supraduction and moderate limitation of abduction. Her right eye and the remainder of the examination of the left eye were normal. Cycloplegic refraction was +2.00 in the right eye and -0.75 +3.00 X 100 in the left. There was no lid discoloration, orbital pulsation, bruits, or changes with Valsalva maneuvers (Fig 3A). Occlusion of the right eye for 10 to 12 hours a day was instituted. The patient was taken to surgery for exploration, biopsy, and correction of the strabismus. Forced ductions showed severe limitation to abduction and supraduction with moderate limitation to adduction. Disinsertion of the medial rectus minimally increased mobility. All the rectus muscles were thickened and stiff. A lO-mm "hang-back" recession combined with a lO-mm resection of the lateral rectus was performed. Her most recent examination at 42 months of age showed visual acuity to be 6/9 in the right eye and 6/18 in the left with Allen pictures. She had globe blepharoptosis in the left eye with remaining lid blepharoptosis, enophthalmos, and limited supraduction and abduction. She had a 10 prism diopter esotropia by Krimsky testing at distance and near that increased to 45 prism diopters in left gaze and occasionally had fusion with a left head turn. Cycloplegic refraction was + 1. 75 in the right eye
and -1.50 +4.75 X 90 in the left. Spectacles were prescribed along with occlusion of the sound eye. Imaging Studies. Computed tomography and/or MRI studies were performed at 8 months, 16 months, and 37 months of age with minimal differences between them. The MRI performed at 37 months of age included an angiographic sequence to rule out an orbital varix. The imaging studies showed inferior displacement of the left globe, an intraconal mass isointense to the muscle cone (Fig 3B), and thickening of the superior rectus muscle with extension medially to involve the superior oblique muscle, orbital fat, and medial rectus muscle (Figs 3C and D). The optic nerves, chiasm, and intracranial contents were normal. Angiographic sequencing demonstrated no abnormal flow in the orbit, cavernous sinus, or intracranial space. Histopathology. Results of light microscopy of hem at oxylin-eosin-stained specimens submitted at the time of surgery showed striated muscle bundles with dense eosinophilic strands of fibrous tissue containing spindle cells, and bundles of striated muscle tissue surrounded by loose connective tissue containing abundant "curly" filaments. Tenon's capsule showed fibrovascular tissue with fat and many "curly" fibers. Fibrovascular tissue with abundant "curly" bundles of material was present throughout the subconjunctival space. Masson's trichrome stain showed that the muscle bundles were infiltrated with dense fibrosis and very faint, splotchy staining consistent with viable muscle fibers, which were present within the bundles. VierhoffVanGeisen stain was used to investigate the "curly" fibers seen with hematoxylineosin for elastin content. They did not stain and most likely represent bundles of collagen (Fig 3E). Patient 4. Patient 4 was initially seen at another institution at 1 week of age for a complaint of a small right eye. Examination at that institution showed a right blepharoptosis, a narrow palpebral fissure, enophthalmos, and the globe fixed in adduction with severe limitation of ductions. The remainder of the examination of both eyes was normal. The right side of the face was described as "hypoplastic." A-scan ultrasonography showed equal axial lengths in both eyes (Fig 3). Surgery was performed at 3 months of age and revealed severe limitations of ductions in all directions. The fibrotic medial, superior, and inferior recti were detached from the globe. The eye remained adducted and enophthalmic after surgery. Patient 4 was first seen at Children's Hospital of Philadelphia at 8 months of age as part of an evaluation by the Craniofacial Team. The patient was delivered after a full-term, uncomplicated pregnancy, labor, and delivery. The parents noticed the swollen right eye and bruised lids, which precluded a view of the right eye for the first few days after life. Results of examination showed fixation and following movements in both eyes with a slight preference for the right eye. Visual acuity testing with Teller acuity cards showed approximate Snellen equivalents of 20/600 in the right eye and 20/2400 in the left, both below expected acuity for age. His vertical fissure height was 5 mm in the right eye and 9 mm in the left and marginal reflex distances of 1 mm in the right eye and 5 mm in the left. He had 1 mm of levator function in the right eye and greater than 12 mm in the left. Enophthalmos of 4 to 5 mm in the right eye and normal globe position in the left was documented using Hertel exophthalmometry. A primary position right esotropia of 30 prism diopters with Krimsky testing was noted with full rotations in the left eye and severe limitation of ductions in the right. Cycloplegic retinoscopy was +4.50 + 1.50 X 70 and +4.00 in the left eye. The remainder of his ocular examination was normal in both eyes (Fig 4A). Imaging Studies. A computed tomography scan performed at 1 month of age showed right enophthalmos, an intraconal mass involving the medial rectus muscle, and the right
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Ophthalmology
Volume 99, Number 3, March 1992 eye was adducted and had a slight bony deformity of the left orbit and minimal right plagiocephaly.
Discussion Congenital fibrosis of the extraocular muscles is a rare condition. The five clinical syndromes result from infiltration of the extraocular muscles with fibrous tissue in varying degrees. 4 ,7-9,18,19 The most common is the general fibrosis syndrome, which follows an autosomal dominant inheritance pattern. Blepharoptosis with a chin up position and the eyes fixed in downgaze with limited ductions are noted. The eyes are usually divergent and the nonfixing eye is amblyopic. Many patients have hyperopic astigmatism. 2•4,7 At surgery, one encounters fibrotic, inelastic, atrophic extraocular muscles with occasional absence or anomalous insertions. IO- 13 There is fibrosis of Tenon's capsule and inelasticity and fragility of the conjunctiva. Computed tomographic imaging of extraocular muscles has shown atrophy or thickening of the extraocular muscles. 6 ,14 The congenital fibrosis, blepharoptosis, and enophthalmos syndrome reported here (patients I to 4, Table 1) is the rarest form of the fibrosis syndromes. 5•6,II,15,16 Our cases share the following features with previously reported cases (patients 5 to 12, Table 1). This is a congenital, nonfamilial, unilateral process manifested by blepharoptosis, restricted ductions, and enophthalmos or globe displacement in the affected eye. There is extraocular muscle atrophy, anomaly or absence, and/or infiltration by fibrous tissue, and the affected eye is amblyopic from deprivation, strabismus, and/or ametropia. In seven of the eight patients in whom visual function is known, vision was decreased in at least one eye (Table 1). All patients with reported refractions had significant refractive errors (greater than +2.00 spheres, +0.75 cylinders, or -1.00 spheres). Five patients had anisometropia (greater than 1.50 diopters difference between the two eyes in any meridian). Interestingly, patient 3 had an increased amount of with-the-rule astigmatism occurring postoperatively. This could be due to increased pull of the vertical muscles after release of horizontal forces after muscle surgery. The cause of this form of localized fibrosis is unclear. We can find no reports of systemic conditions with generalized or localized fibrosis occurring at birth. Meyer and Ludatscher l7 reported two cases of associated extraocular muscle fibrosis in patients who underwent enucleation for advanced intraocular malignant melanoma. This was probably the result of contiguous tumor and inflammation in the orbital tissues. In our literature review, four patients had "scars" around the lids that were not due to surgical intervention (Table 1). Effron et al 6 postulate prenatal orbital penetration as a possible cause of this syndrome. ( Figure 4. A, postoperative photograph of case 4 shows right enophthalmos, blepharoptosis, and esotropia. The patient is fixing with his preferred involved eye. B, coronal computed tomography scan shows a right intraconal mass involving the medial rectus muscle and mild hypoplasia of the right orbit and temporal bone.
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Hertle et al . Congenital Unilateral Fibrosis, Blepharoptosis, and Enophthalmos Syndrome The lower lid scar in our patient I was representative of a partial clefting syndrome. None of our patients had a history of maternal amniocentesis. All of our patients had histories of perinatal periorbital swelling and ecchymoses. It is difficult to discern whether this was related to perinatal trauma or part of a prenatal inflammatory response remaining at birth. Radiologic studies may be helpful in differentiating this syndrome from thyroid ophthalmopathy, vascular abnormalities, intrinsic tumors, and active inflammation. 14 Plain films of the skull are normal. Computed tomography shows changes in the muscles and the orbit. The globe is both enophthalmic and vertically displaced. Extraocular muscles, including the tendons, are variably involved and thickened, unlike thyroid ophthalmopathy, which spares the tendons and uniformly affects the inferior recti. There may be atrophy, absence, or anomalous insertions of the muscles. There may be a diffusely infiltrating orbital mass which violates anatomic planes and is not primarily either intraconal or extraconal. This lesion has the appearance of inflammatory or fibrous tissue, does not enhance with contrast, and has no flow on MRI angiographic sequencing. In patient 1, there was an associated deformity of the ipsilateral temporal bone. Histopathologic analysis has consistently shown fibrotic infiltration of the extraocular muscles. 9- 12 The normal muscle architecture is atrophic and replaced by fibrous tissue. The presence of "curly" fibers, which probably represent bundles of collagen, was seen in specimens of Tenon's capsule and conjunctiva. This may represent a more diffuse orbital process than what is appreciated clinically. Although treatment of these patients is difficult, visual rehabilitation can be achieved. This is accomplished with occlusion for amblyopia and spectacle correction of refractive errors and anisometropia. Blepharoptosis surgery, which can contribute to visual loss, is difficult in these patients due to an almost complete lack of motility of the globe and lid in the affected eye. The goal of strabismus surgery is to release muscle restrictions and to align the eye as close as possible to straight in primary position. There is little hope of binocular cooperation and normal appearance, but this combined approach to visual and cosmetic rehabilitation can be successful.
References 1. Aebli R. Retraction syndrome. Arch Ophthalmol 1933; 10:
602-10. 2. Brown HW. Congenital structural muscle anomalies. In: Allen JH, ed. Strabismus Ophthalmic Symposium 1. St. Louis: CV Mosby 1950; 205-36. 3. Hansen E. Congenital general fibrosis of the extraocular muscles. Acta Ophthalmol1968; 46:469-76. 4. Harley RD, Rodrigues MM, Crawford JS. Congenital fibrosis of the extraocular muscles. Trans Am Ophthalmol Soc 1978; 76: 197-226. 5. Leone CR Jr, Weinstein GW. Orbital fibrosis with enophthalmos. Ophthalmic Surg 1972; 3:71-5. 6. Effron L, Price RL, Berlin AJ. Congenital unilateral orbital fibrosis with suspected prenatal orbital penetration. J Pediatr Ophthalmol Strab 1985; 22:133-6. 7. Villaseca A. Strabismus fixus. Am J Ophthalmol1959; 48: 751-62. 8. Laughlin RC. Congenital fibrosis of the extraocular muscles. Am J Ophthalmol1956; 41:432-8. 9. Kuwabara T, Cogan DG, Johnson Cc. Structures of the muscles of the upper eyelid. Arch Ophthalmol 1975; 93: 1189-97. 10. Crawford JS. Congenital fibrosis syndrome. Can J Ophthalmol 1970; 5:331-6. 11. Harley RD, Rodrigues MM, Crawford JS. Congenital fibrosis of the extraocular muscles. J Pediatr Ophthalmol Strabismus 1978; 15:346-58. 12. von Noorden GK. Congenital hereditary ptosis with inferior rectus fibrosis. Report of two cases. Arch Ophthalmol 1970; 83:378-80. 13. Apt L, Axelrod RN. Generalized fibrosis of the extraocular muscles. Am J Ophthalmol 1978; 85:822-9. 14. Hupp SL, Williams JP, Curran JE. Computerized tomography in the diagnosis of the congenital fibrosis syndrome. J Clin Neuro Ophthalmol 1990; 10:135-9. 15. Parks MM. Ocular Motility and Strabismus. Hagerstown MD: Harper & Row, 1975; 170-2. 16. Prakash P, Menon V, Ghosh G. Congenital fibrosis of superior rectus and superior oblique: a case report. Br J Ophthalmol 1985; 69:57-9. 17. Meyer E, Ludatscher RM. Massive fibrosis of extraocular muscles related to intraocular tumor. Ophthalmologica 1990; 200: 198-202. 18. Khodadoust AA, von Noorden GK. Bilateral vertical retraction syndrome. Arch Ophthalmol 1967; 78:606-12. 19. Pesando P, Nuzzi G, Maraini G. Vertical retraction syndrome. Ophthalmologica 1978; 177:254-9.
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