Volume 19 Number 3 / June 2015 References 1. Fechtner RD, Minckler D, Weinreb RN, Frangei G, Jampol LM. Complications of glaucoma surgery: ocular decompression retinopathy. Arch Ophthalmol 1992;110:965-8. 2. Mukkamala SK, Patel A, Dorairaj S, et al. Ocular decompression retinopathy: a review. Surv Ophthalmol 2013;58:505-12. 3. Arevalo JF, Mendoza AJ, Fernandez CF, et al. Decompression retinopathy after intraocular surgery. Arch Soc Esp Oftalmol 2007;82: 629.e34. 4. Jung KI, Lim SA, Lopilly Park HY, Park CK. Risk factors for decompression retinopathy after glaucoma surgery. J Glaucoma 2014;23: 638-43. 5. Gupta R, Browning AC, Amoaku WM. Multiple retinal haemorrhages (decompression retinopathy) following paracentesis for macular branch artery occlusion. Eye (Lond) 2005;19:592.e3. 6. Lee EJ, Kim TW, Weinreb RN. Reversal of lamina cribrosa displacement and thickness after trabeculectomy in glaucoma. Ophthalmology 2012;119:1359.e66. 7. Dudley DF, Leen MM, Kinyoun JL, Mills RP. Retinal hemorrhages associated with ocular decompression after glaucoma surgery. Ophthalmic Surg Lasers 1996;27:147-50. 8. Hermann C, Pillunat K, Pillunat LE. Retinal hemorrhages after Ahmed glaucoma valve implantation. Ophthalmologe 2013;110:978-81. 9. Mandal AK, Jalali S, Rao VS, Gothwal VK, Karim A. Valsalva retinopathy-like hemorrhage associated with combined trabeculotomytrabeculectomy in a patient with developmental glaucoma. Ophthalmic Surg Lasers 2001;32:330-32. 10. Saricaoglu MS, Kalayci D, Guven D, Karakurt A, Hasiripi H. Decompression retinopathy and possible risk factors. Acta Ophthalmol 2009; 87:94-5.
Surgical treatment of familial absence of the inferior rectus muscle Sujata Guha, DNB, FRCS, Preeti M. Hurakadli, MS, Sanil V. Shah, MS, and Khyati Shah, DNB Familial inferior rectus muscle aplasia is rare. Patients with this condition require surgery to correct hypertropia and anomalous head posture. We report successful surgical outcomes in a father with bilateral and his 2 children with unilateral absent inferior rectus muscle, all 3 of whom were diagnosed preoperatively by imaging.
Author affiliations: Department of Pediatric Ophthalmology, Sankara Nethralaya, Kolkata, India Submitted January 15, 2015. Revision accepted February 17, 2015. Correspondence: Dr. Preeti M. Hurakadli, MS, Department of Pediatric Ophthalmology, Sankara Nethralaya, 147, EM Bypass, Near Purba Jadhavpur Police Station, Mukundapur, Kolkata – 700009, India (email: [email protected]). J AAPOS 2015;19:289-292. Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.02.007
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Case 1
A
40-year-old man born of nonconsanguineous marriage presented at Sankara Nethralaya, Kolkata, with a history of strabismus since birth, neck discomfort associated with chin-down head posture, and right head turn (Figure 1A). There were no similar complaints in the previous generation or his siblings. On examination, best-corrected visual acuity was 20/20 in each eye. There was bilateral marked limitation of movement in the field of action of the inferior rectus muscle. Alternate prism and cover testing revealed 50D of exotropia with 18D of right hypertropia in primary gaze. Computed tomography (CT) revealed absence of both inferior rectus muscles (Figure 1C). Staged surgery was performed under local anesthesia. In the first stage an inverse Knapp procedure was performed, with transposition of horizontal rectus muscles inferiorly 6.5 mm from the limbus at the poles of the inferior rectus presumed insertion. Injection of 2.5 units of botulinum toxin A into the superior rectus muscle of the right eye was performed. In the second stage the left lateral rectus was recessed 9 mm and the left medial rectus was resected 6 mm and reattached a full tendon width downward. In addition the left inferior oblique was anteriorizied and 2.5 units of botulinum toxin A injected in the left superior rectus muscle. (Figure 1B). Transposition of the inferior oblique muscle was added because it was thought that horizontal recession and resection would reduce the effectiveness of transposition. Intraoperatively, the inferior rectus muscle was found to be absent in both eyes; a sheath with anterior ciliary vessels was seen in the right eye, and a small episcleral vessel was found in the left eye (Figure 1D). At 1 year’s follow-up the patient was orthotropic in primary gaze, with improved movements and head posture (Figure 1E,F).
Case 2 The son of case 1, born of nonconsanguineous marriage, presented at 2 years of age with right hyperdeviation since birth (Figure 2A). Ocular motility examination revealed limitation in the field of action of the inferior rectus muscle in the right eye and 40D of right hypertropia in primary position by modified Krimsky test. A CT scan revealed absence of inferior rectus muscle in the right eye (Figure 2B). At 3 years of age the patient underwent full tendon transposition of the medial and lateral rectus muscles inferiorly 6.5 mm from limbus. The inferior rectus sheath with anterior ciliary vessels was seen in place of an inferior rectus muscle. At 5 years’ follow-up, the patient had 10D of left hypertropia, with 10D of esotropia for distance, with improved cosmesis and ocular motility (Figure 2C,D).
Case 3 The daughter of case 1 presented with anomalous head posture (Figure 3A). On ocular motility testing, there was marked limitation of movement in the field of action of
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FIG 1. A, Preoperative photograph showing anomalous head posture. B, Preoperative photograph before second-stage surgery. C, CT scan showing absence of both inferior rectus muscles (inferior orbital bone is intact, apparent absence is an artifact). D, Intraoperative photograph showing absence of inferior muscle and presence of anterior ciliary vessel within thin sheath at the place where the inferior rectus should have been (arrow). E-F, One-year postoperative follow-up after second stage surgery.
the right inferior rectus muscle and 40D of right hypertropia by modified Krimsky test (Figure 3B). CT scan revealed absence of the inferior rectus muscle in right eye (Figure 3C). At 4 years of age, a inverse Knapp procedure was performed and 2.5 units of botulinum toxin A was injected into the tight superior rectus muscle. The 3 months’ postoperative examination showed 16D of left hypertropia, slight chin-down head posture, improved motility, and resolved ptosis (Figure 3D,E).
Discussion Unilateral absence of the inferior rectus muscle is uncommon; bilateral absence is very rare.1-6 Congenital absence of the inferior rectus muscle can present as head tilt, incomitant hypertropia with limitation of ocular motility in the field of action of the inferior rectus, and torticollis.1-4 To our knowledge, this is the first case report of familial, nonsyndromic, inferior rectus muscle aplasia where all 3 members were diagnosed
preoperatively by imaging and treated by transposition surgery along with injection botulinum to superior rectus muscle with good results. Pimenides and colleagues4 first reported familial aplasia of the inferior rectus muscle with a mother in whom bilateral absence was detected by surgical exploration and subsequently confirmed in her 2 children by imaging. The lack of consanguinity and absence of muscle in both children supports the possibility of autosomal dominant form of inheritance. Orbital CT or magnetic resonance (MR) imaging prior to surgery helps in confirming the diagnosis and planning an intervention.1-3 Cooper and Greenspan6 first described Knapps procedure of transposing the horizontal rectus muscles in cases of absent inferior rectus muscle; it was subsequently reported in other case series with good success.1,3 Other techniques involve anterior transposition of the inferior oblique muscle and recession of the superior rectus muscle.2,4,5 Superior rectus recession surgery improves cosmesis but does not improve ocular motility in
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FIG 2. A, Preoperative photograph. B, CT scan showing absence of right inferior rectus (white arrow, artifact). C-D, Postoperative photograph at 5-year follow-up.
FIG 3. A-B, Preoperative photographs. C, CT scan showing the absence of right inferior rectus muscle (arrow). D-E, Postoperative photographs.
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downgaze.7,8 Astle and colleauges9 have reported use of botulinum toxin in tight superior rectus muscles intraoperatively with potential reversibility of possible postoperative ptosis. The residual vertical and horizontal deviation was treated by transposition along with recession and resection of horizontal muscle with good surgical outcome as has been described by Hong and colleauges10 for large exotropia in a patient of monocular elevation deficit. Transposition should be performed with caution, because it poses a risk for developing anterior segment ischemia in patients with absent extraocular muscle. Mu~ noz1 reported the presence of anterior ciliary vessel at the site of the inferior rectus insertion; Taylor and Kraft3 reported small episcleral vessel there. In our patients, the presence of ciliary vessels reduced the risk of anterior segment ischemia after transposition. Contrary to the assumption of Pimenides and colleagues,4 in our index case with long-standing chin-down head posture, surgery improved cosmesis and relieved torticollis.
Literature Search MEDLINE and PubMed were searched without language or date restriction on December 25, 2014, using the following terms: familial absence AND inferior rectus absence.
Volume 19 Number 3 / June 2015 References 1. Mu~ noz M. Congenital absence of the inferior rectus muscle. Am J Ophthalmol 1996;121:327-9. 2. Almahmoudi F, Khan AO. Inferior oblique anterior transposition for the unilateral hypertropia associated with bilateral inferior rectus muscle aplasia. J AAPOS 2014;18:301-3. 3. Taylor RH, Kraft SP. Aplasia of the inferior rectus muscle: a case report and review of the literature. Ophthalmology 1997;104: 415-18. 4. Pimenides D, Young S, Minty I, Spratt J, Tiffin PA. Familial aplasia of the inferior rectus muscles. J Pediatr Ophthalmol Strabismus 2005;42: 222-7. 5. Gamino S, Tartata A, Zelter M. Recession and anterior transposition of the inferior oblique muscle to treat three cases of absent inferior rectus muscle. Binocul Vis Strabismus Q 2002;17: 287-95. 6. Cooper EL, Greenspan JA. Congenital absence of the inferior rectus muscle. Arch Ophthalmol 1971;86:451-4. 7. Majid MA, Ah-Fat FG, Wilson R, Marsh IB. Congenital absence of inferior rectus muscle in a patient with neurofibromatosis. Eye 2001;15:795-6. 8. Bhate M, Martin FJ. Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. J AAPOS 2012;16:304-6. 9. Astle WF, Hill VE, Ells AL, Chi NT, Martinovic E. Congenital absence of the inferior rectus muscle—diagnosis and management. J AAPOS 2003;7:339-44. 10. Hong S, Chang Y, Han SH. Full tendon transposition augmented with posterior intermuscular suture and recession-resection surgery. Korean J Ophtahlmol 2006;20:254-5.
Journal of AAPOS
Surgical treatment of familial absence of the inferior rectus muscle Sujata Guha, DNB, FRCS, Preeti M. Hurakadli, MS, Sanil V. Shah, MS, and Khyati Shah, DNB Familial inferior rectus muscle aplasia is rare. Patients with this condition require surgery to correct hypertropia and anomalous head posture. We report successful surgical outcomes in a father with bilateral and his 2 children with unilateral absent inferior rectus muscle, all 3 of whom were diagnosed preoperatively by imaging.
Author affiliations: Department of Pediatric Ophthalmology, Sankara Nethralaya, Kolkata, India Submitted January 15, 2015. Revision accepted February 17, 2015. Correspondence: Dr. Preeti M. Hurakadli, MS, Department of Pediatric Ophthalmology, Sankara Nethralaya, 147, EM Bypass, Near Purba Jadhavpur Police Station, Mukundapur, Kolkata – 700009, India (email: [email protected]). J AAPOS 2015;19:289-292. Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.02.007
Journal of AAPOS
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Case 1
A
40-year-old man born of nonconsanguineous marriage presented at Sankara Nethralaya, Kolkata, with a history of strabismus since birth, neck discomfort associated with chin-down head posture, and right head turn (Figure 1A). There were no similar complaints in the previous generation or his siblings. On examination, best-corrected visual acuity was 20/20 in each eye. There was bilateral marked limitation of movement in the field of action of the inferior rectus muscle. Alternate prism and cover testing revealed 50D of exotropia with 18D of right hypertropia in primary gaze. Computed tomography (CT) revealed absence of both inferior rectus muscles (Figure 1C). Staged surgery was performed under local anesthesia. In the first stage an inverse Knapp procedure was performed, with transposition of horizontal rectus muscles inferiorly 6.5 mm from the limbus at the poles of the inferior rectus presumed insertion. Injection of 2.5 units of botulinum toxin A into the superior rectus muscle of the right eye was performed. In the second stage the left lateral rectus was recessed 9 mm and the left medial rectus was resected 6 mm and reattached a full tendon width downward. In addition the left inferior oblique was anteriorizied and 2.5 units of botulinum toxin A injected in the left superior rectus muscle. (Figure 1B). Transposition of the inferior oblique muscle was added because it was thought that horizontal recession and resection would reduce the effectiveness of transposition. Intraoperatively, the inferior rectus muscle was found to be absent in both eyes; a sheath with anterior ciliary vessels was seen in the right eye, and a small episcleral vessel was found in the left eye (Figure 1D). At 1 year’s follow-up the patient was orthotropic in primary gaze, with improved movements and head posture (Figure 1E,F).
Case 2 The son of case 1, born of nonconsanguineous marriage, presented at 2 years of age with right hyperdeviation since birth (Figure 2A). Ocular motility examination revealed limitation in the field of action of the inferior rectus muscle in the right eye and 40D of right hypertropia in primary position by modified Krimsky test. A CT scan revealed absence of inferior rectus muscle in the right eye (Figure 2B). At 3 years of age the patient underwent full tendon transposition of the medial and lateral rectus muscles inferiorly 6.5 mm from limbus. The inferior rectus sheath with anterior ciliary vessels was seen in place of an inferior rectus muscle. At 5 years’ follow-up, the patient had 10D of left hypertropia, with 10D of esotropia for distance, with improved cosmesis and ocular motility (Figure 2C,D).
Case 3 The daughter of case 1 presented with anomalous head posture (Figure 3A). On ocular motility testing, there was marked limitation of movement in the field of action of
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FIG 1. A, Preoperative photograph showing anomalous head posture. B, Preoperative photograph before second-stage surgery. C, CT scan showing absence of both inferior rectus muscles (inferior orbital bone is intact, apparent absence is an artifact). D, Intraoperative photograph showing absence of inferior muscle and presence of anterior ciliary vessel within thin sheath at the place where the inferior rectus should have been (arrow). E-F, One-year postoperative follow-up after second stage surgery.
the right inferior rectus muscle and 40D of right hypertropia by modified Krimsky test (Figure 3B). CT scan revealed absence of the inferior rectus muscle in right eye (Figure 3C). At 4 years of age, a inverse Knapp procedure was performed and 2.5 units of botulinum toxin A was injected into the tight superior rectus muscle. The 3 months’ postoperative examination showed 16D of left hypertropia, slight chin-down head posture, improved motility, and resolved ptosis (Figure 3D,E).
Discussion Unilateral absence of the inferior rectus muscle is uncommon; bilateral absence is very rare.1-6 Congenital absence of the inferior rectus muscle can present as head tilt, incomitant hypertropia with limitation of ocular motility in the field of action of the inferior rectus, and torticollis.1-4 To our knowledge, this is the first case report of familial, nonsyndromic, inferior rectus muscle aplasia where all 3 members were diagnosed
preoperatively by imaging and treated by transposition surgery along with injection botulinum to superior rectus muscle with good results. Pimenides and colleagues4 first reported familial aplasia of the inferior rectus muscle with a mother in whom bilateral absence was detected by surgical exploration and subsequently confirmed in her 2 children by imaging. The lack of consanguinity and absence of muscle in both children supports the possibility of autosomal dominant form of inheritance. Orbital CT or magnetic resonance (MR) imaging prior to surgery helps in confirming the diagnosis and planning an intervention.1-3 Cooper and Greenspan6 first described Knapps procedure of transposing the horizontal rectus muscles in cases of absent inferior rectus muscle; it was subsequently reported in other case series with good success.1,3 Other techniques involve anterior transposition of the inferior oblique muscle and recession of the superior rectus muscle.2,4,5 Superior rectus recession surgery improves cosmesis but does not improve ocular motility in
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FIG 2. A, Preoperative photograph. B, CT scan showing absence of right inferior rectus (white arrow, artifact). C-D, Postoperative photograph at 5-year follow-up.
FIG 3. A-B, Preoperative photographs. C, CT scan showing the absence of right inferior rectus muscle (arrow). D-E, Postoperative photographs.
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downgaze.7,8 Astle and colleauges9 have reported use of botulinum toxin in tight superior rectus muscles intraoperatively with potential reversibility of possible postoperative ptosis. The residual vertical and horizontal deviation was treated by transposition along with recession and resection of horizontal muscle with good surgical outcome as has been described by Hong and colleauges10 for large exotropia in a patient of monocular elevation deficit. Transposition should be performed with caution, because it poses a risk for developing anterior segment ischemia in patients with absent extraocular muscle. Mu~ noz1 reported the presence of anterior ciliary vessel at the site of the inferior rectus insertion; Taylor and Kraft3 reported small episcleral vessel there. In our patients, the presence of ciliary vessels reduced the risk of anterior segment ischemia after transposition. Contrary to the assumption of Pimenides and colleagues,4 in our index case with long-standing chin-down head posture, surgery improved cosmesis and relieved torticollis.
Literature Search MEDLINE and PubMed were searched without language or date restriction on December 25, 2014, using the following terms: familial absence AND inferior rectus absence.
Volume 19 Number 3 / June 2015 References 1. Mu~ noz M. Congenital absence of the inferior rectus muscle. Am J Ophthalmol 1996;121:327-9. 2. Almahmoudi F, Khan AO. Inferior oblique anterior transposition for the unilateral hypertropia associated with bilateral inferior rectus muscle aplasia. J AAPOS 2014;18:301-3. 3. Taylor RH, Kraft SP. Aplasia of the inferior rectus muscle: a case report and review of the literature. Ophthalmology 1997;104: 415-18. 4. Pimenides D, Young S, Minty I, Spratt J, Tiffin PA. Familial aplasia of the inferior rectus muscles. J Pediatr Ophthalmol Strabismus 2005;42: 222-7. 5. Gamino S, Tartata A, Zelter M. Recession and anterior transposition of the inferior oblique muscle to treat three cases of absent inferior rectus muscle. Binocul Vis Strabismus Q 2002;17: 287-95. 6. Cooper EL, Greenspan JA. Congenital absence of the inferior rectus muscle. Arch Ophthalmol 1971;86:451-4. 7. Majid MA, Ah-Fat FG, Wilson R, Marsh IB. Congenital absence of inferior rectus muscle in a patient with neurofibromatosis. Eye 2001;15:795-6. 8. Bhate M, Martin FJ. Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome. J AAPOS 2012;16:304-6. 9. Astle WF, Hill VE, Ells AL, Chi NT, Martinovic E. Congenital absence of the inferior rectus muscle—diagnosis and management. J AAPOS 2003;7:339-44. 10. Hong S, Chang Y, Han SH. Full tendon transposition augmented with posterior intermuscular suture and recession-resection surgery. Korean J Ophtahlmol 2006;20:254-5.
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