Ophthalmic Paediatrics and Genetics
ISSN: 0167-6784 (Print) (Online) Journal homepage: http://www.tandfonline.com/loi/iopg19
Peters' anomaly: an unusual case C. A. Eggink, C. M. Mooy & A. Pinckers To cite this article: C. A. Eggink, C. M. Mooy & A. Pinckers (1991) Peters' anomaly: an unusual case, Ophthalmic Paediatrics and Genetics, 12:1, 19-22, DOI: 10.3109/13816819109023080 To link to this article: http://dx.doi.org/10.3109/13816819109023080
Published online: 08 Jul 2009.
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Article views: 5
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Citing articles: 1 View citing articles
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iopg19 Download by: [La Trobe University]
Date: 22 May 2016, At: 00:24
C.; Aeolus Press Ophthalmic Paediatrics and Genetics 0167-6784/91/USS 3.50
(Accepted 17 December 1990)
Peters’ anomaly: an unusual case C . A. EGGINK’*, C. M. MOOY2 and A. PINCKERS’
‘Institute of Ophthalmology, University of Nijmegen, Nijmegen; 21nstitute of Clinical Pathology
Downloaded by [La Trobe University] at 00:24 22 May 2016
and Ophthalmology, Erasmus University, Rotterdam; The Netherlands
ABSTRACT. The authors report on a case of congenital bilateral protruding corneal opacities. Clinical and histological examination was consistent with a diagnosis of Peters’ anomaly with a defect in the endothelium and Descemet’s membrane but without abnormalities of iris and lens. Corneal grafting was performed on both eyes. During a follow-up period of one year the corneas have remained clear. However, surgical intervention for glaucoma has been necessary. Key words: Peters’ anomaly; leucoma; consanguinity; glaucoma; corneal graft ; histology
INTRODUCTION The presence of bilateral congenital corneal leucomas forms an aetiological, diagnostic and therapeutic challenge. Treatment has to be started as early as possible, in order to prevent severe amblyopia. The benefit of corneal grafting should be weighed against the possibility of spontaneous improvement. We report on a newborn infant with an unusual form of corneal leucomas due to a Peters’ anomaly.
CASE REPORT S.H., female, was born as the second child of a consanguineous marriage (Fig. 1). The first day after birth there was a purulent conjunctivitis, due to Chlamydia trachomatis and to Staphylococcus aureus. Treatment with tetramycin eyedrops was successful. Examination of the corneas showed a
*
Correspondenceto: C. A. Eggink. M.D., Department of Ophthalmology, University of Nijmegen, St. Radboudziekenhuis, Philips van Leydenlaan 15,6500 HB Nijmegen, The Netherlands
protrusion that made closure of the eyelids almost impossible. There were oval-shaped excentric corneal leucomas (Fig. 2). The corneal periphery showed vascular ingrowth. Examination of the anterior chamber and lens was almost impossible, however the anterior chamber appeared shallow. The intraocular pressure was normal. I t was obvious that without surgical intervention this child never would obtain useful visual function. At the age of four weeks an 8 mm corneal graft was performed. The aspect of iris and lens was macroscopically normal, as was the ocular fundus. Consequently at the age of seven weeks an uncomplicated corneal graft of the second eye was done. Again, iris, lens and fundus were normal. For the correction of the corneal astigmatism rigid gas permeable contact lenses were fitted. Three months postoperatively the sutures were removed. Medication with topical corticosteroids was gradually diminished. After ten months the intraocular pressure of both eyes was increasing with cupping of the optic discs. After a combined trabeculotomy/trabeculectomy technique the intraocular pressure returned to normal and the cupping disappeared. One year after the corneal graft both corneas are clear (Fig. 3). Visual function is good and development of binocular function is anticipated.
Ophthalmic Paediatrics and Genetics - 1991, Vol. 12, No. 1, pp. 19-22 0 Aeolus Press Amsterdam 1991
19
C. A. Eggink et at.
e
P d
Fig 1. Proband is second child of a consanguineous
marriage. 3
Downloaded by [La Trobe University] at 00:24 22 May 2016
Fig. 3. Clear corneal transplants after a follow-up of one
Histology. The right and left corneas were embedded in paraffin and examined by light microscopy. The identical, markedly thickened corneas showed a localized crater-shaped inner surface. The defect
6
.
Q
year.
1 1 1 1
Fig. 2. Oval shaped excentric corneal leucornas. present at birth.
20
was filled with fibrinous material and the underlying Descemet’s membrane and endothelium were lacking. The surrounding corneal stroma was
Downloaded by [La Trobe University] at 00:24 22 May 2016
Peters’ anomaly: an unusual case
FIg. 4. Histologic presentation (light microscopic) of posterior corneal defect without iridocorneal adhesions.
hypercellular, showing vascular ingrowth and strornal fibrosis. There were no signs of either iridocorneal adhesions or corneal inflammation (Fig. 4).
DISCUSSION Corneal leucomas with a defect in Descemet’s membrane and absent endothelium of the central cornea were first described in the 19th century. Based on histological examination Townsend proposed a classification of eyes with a central defect in Descemet’s membrane-’.4. In 1975 Waring presented his stepladder classification of abnormalities in the anterior chamber cleavage syndrome, also known as mesodermal dysgenesis of the iris and On anatomical grounds the anomalies of the anterior segment were divided into a group with central and a group with
peripheral anomalies. A third group combines the findings of the central and the peripheral group. The most prominent feature of the central group is a defect of the endothelium and Descemet’s membrane with opacification (leucoma) of the overlying cornea. In o u r patient the central defect in Descemet’s membrane was not aligned with the pupillary space. The curling termination of Descemet’s membrane at the edge of the crater-like defect is suggestive of a rupture due to congenital glaucoma with secondary corneal changes. However, in contrast with the semicircular defects in Descemet’s membrane (which are commonly limbus parallel) due to congenital glaucoma or birth trauma, the crater-like shaped defect is consistent with a developmental defect as reported by Peters’.
21
C. A. Eggink et al.
Downloaded by [La Trobe University] at 00:24 22 May 2016
~~
The corneal edema is the result of an unlimited inflow of aqueous humor into the corneal stroma where there is absence of the endothelium and of Descemet’s membrane. Peripheral vascularization is also consistent with Peters’ anomaly. The histologic features are consistent with Peters’ anomaly. Congenital hereditary endothelial dystrophy and posterior keratoconus were ruled out on clinical and histopathological grounds8-l0. In the wide range of presentations of Peters’ anomaly our patient can be diagnosed as a Peters’ anomaly with a posterior corneal defect but without keratolenticular and iridocorneal adhesions or iris and lens anomalies. Only a few well-documented cases of this type of Peters’ anomaly have been described5* I I , to which this case can be added. In Peters’ anomaly glaucoma is not an unusual finding. Glaucoma may occur as an infantile type, presenting before the age of six years in 50% of the cases, as a juvenile type or as a late complication after corneal grafting5*] I . The first weeks or months of life are extremely 7’
important in the development of the visual system. In Peters’ anomaly the peripheral borders of the leucoma may clear up with time but the central opacity still constitutes an impediment for visual development. Surgical intervention should be done as early as possible in order to prevent severe amblyopia. The problems of corneal grafting in newborn infants can be summarized as follows”*l 2 : - the surgical procedure is technically difficult because of decreased rigidity and increased elasticity of the structures; - the parents must be instructed about possible complications in order to prevent unnecessary delays in treatment; - wound healing is quick. Usually the sutures can be removed within two months; - the risk of graft rejection may be increased. Peters’ anomaly is inherited as an autosomal recessive trait. Sporadic or simplex cases have been reported. In our patient the first cousin consanguinity favours an autosomal recessive inheritance.
REFERENCES 1. Von Hippel E : Ueber Hydrophthalmus congenitus. Graefe’s Arch Ophthalmol 44: 539-564, 1897 2. Peters A : Ueber angeborene Defektbildung der Descemetschen Membran. Klin Mbl Augenheilk 44: 27-40, 1906 3 . Townsend W M : Congenital corneal leucomas. I . Central defect in Descemet’s membrane. Am J Ophthalmol 77: 80-86, 1974 4 . Townsend WM, Font RL, Zimrnerman LE: Congenital corneal leucomas. 2. Histopathologic findings in 19 eyes with central defect in Descemet’s membrane. Am J Ophthalmol 77: 192-206, 1974 5 . Waring G O : Anterior chamber cleavage syndrome. A stepladder classification. Surv Ophthalmol 20: 3-27, 1975 6. Alkemade PPH : Dysgenesis Mesodermatis of the Iris and the Cornea. Assen. The Netherlands : Van Gorcum & Comp 1969 7. Waring GO, Rodriquez MM : Congenital and neonatal corneal abnormalities. In : Jakobiec FA (ed): Ocdur Anatomy, Embryology and Terafology, pp 167-196. Philadelphia: Harper and Row 1982 8 . Kenyon KR : Mesenchymal dysgenesis in Peters’ anomaly, sclerocornea and congenital endothelial dystrophy. Exp Eye Res 21 : 125-142, 1975 9. Krachmer J H , Kodriquez MM : Posterior keratoconus. Arch Ophthalmol 96: 1867-1873, 1978 10. Wolter JR, Haney WP : Histopathology of keratoconus posticus circumscriptus. Arch Ophthalmol 6 9 : 357-362. 1963 11. Schantzlin DJ, Goldberg DB, Brown SI : Transplantation of congenitally opaque corneas. Ophthalmology 87 : 1253-1264, 1980 12. Stulting DJ, Sumers KD, Cavanagh HD, Waring GO, Gammon JA : Penetrating keratoplasty in children. Ophthalmology 91 : 1222-1230. 1984
22
ISSN: 0167-6784 (Print) (Online) Journal homepage: http://www.tandfonline.com/loi/iopg19
Peters' anomaly: an unusual case C. A. Eggink, C. M. Mooy & A. Pinckers To cite this article: C. A. Eggink, C. M. Mooy & A. Pinckers (1991) Peters' anomaly: an unusual case, Ophthalmic Paediatrics and Genetics, 12:1, 19-22, DOI: 10.3109/13816819109023080 To link to this article: http://dx.doi.org/10.3109/13816819109023080
Published online: 08 Jul 2009.
Submit your article to this journal
Article views: 5
View related articles
Citing articles: 1 View citing articles
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iopg19 Download by: [La Trobe University]
Date: 22 May 2016, At: 00:24
C.; Aeolus Press Ophthalmic Paediatrics and Genetics 0167-6784/91/USS 3.50
(Accepted 17 December 1990)
Peters’ anomaly: an unusual case C . A. EGGINK’*, C. M. MOOY2 and A. PINCKERS’
‘Institute of Ophthalmology, University of Nijmegen, Nijmegen; 21nstitute of Clinical Pathology
Downloaded by [La Trobe University] at 00:24 22 May 2016
and Ophthalmology, Erasmus University, Rotterdam; The Netherlands
ABSTRACT. The authors report on a case of congenital bilateral protruding corneal opacities. Clinical and histological examination was consistent with a diagnosis of Peters’ anomaly with a defect in the endothelium and Descemet’s membrane but without abnormalities of iris and lens. Corneal grafting was performed on both eyes. During a follow-up period of one year the corneas have remained clear. However, surgical intervention for glaucoma has been necessary. Key words: Peters’ anomaly; leucoma; consanguinity; glaucoma; corneal graft ; histology
INTRODUCTION The presence of bilateral congenital corneal leucomas forms an aetiological, diagnostic and therapeutic challenge. Treatment has to be started as early as possible, in order to prevent severe amblyopia. The benefit of corneal grafting should be weighed against the possibility of spontaneous improvement. We report on a newborn infant with an unusual form of corneal leucomas due to a Peters’ anomaly.
CASE REPORT S.H., female, was born as the second child of a consanguineous marriage (Fig. 1). The first day after birth there was a purulent conjunctivitis, due to Chlamydia trachomatis and to Staphylococcus aureus. Treatment with tetramycin eyedrops was successful. Examination of the corneas showed a
*
Correspondenceto: C. A. Eggink. M.D., Department of Ophthalmology, University of Nijmegen, St. Radboudziekenhuis, Philips van Leydenlaan 15,6500 HB Nijmegen, The Netherlands
protrusion that made closure of the eyelids almost impossible. There were oval-shaped excentric corneal leucomas (Fig. 2). The corneal periphery showed vascular ingrowth. Examination of the anterior chamber and lens was almost impossible, however the anterior chamber appeared shallow. The intraocular pressure was normal. I t was obvious that without surgical intervention this child never would obtain useful visual function. At the age of four weeks an 8 mm corneal graft was performed. The aspect of iris and lens was macroscopically normal, as was the ocular fundus. Consequently at the age of seven weeks an uncomplicated corneal graft of the second eye was done. Again, iris, lens and fundus were normal. For the correction of the corneal astigmatism rigid gas permeable contact lenses were fitted. Three months postoperatively the sutures were removed. Medication with topical corticosteroids was gradually diminished. After ten months the intraocular pressure of both eyes was increasing with cupping of the optic discs. After a combined trabeculotomy/trabeculectomy technique the intraocular pressure returned to normal and the cupping disappeared. One year after the corneal graft both corneas are clear (Fig. 3). Visual function is good and development of binocular function is anticipated.
Ophthalmic Paediatrics and Genetics - 1991, Vol. 12, No. 1, pp. 19-22 0 Aeolus Press Amsterdam 1991
19
C. A. Eggink et at.
e
P d
Fig 1. Proband is second child of a consanguineous
marriage. 3
Downloaded by [La Trobe University] at 00:24 22 May 2016
Fig. 3. Clear corneal transplants after a follow-up of one
Histology. The right and left corneas were embedded in paraffin and examined by light microscopy. The identical, markedly thickened corneas showed a localized crater-shaped inner surface. The defect
6
.
Q
year.
1 1 1 1
Fig. 2. Oval shaped excentric corneal leucornas. present at birth.
20
was filled with fibrinous material and the underlying Descemet’s membrane and endothelium were lacking. The surrounding corneal stroma was
Downloaded by [La Trobe University] at 00:24 22 May 2016
Peters’ anomaly: an unusual case
FIg. 4. Histologic presentation (light microscopic) of posterior corneal defect without iridocorneal adhesions.
hypercellular, showing vascular ingrowth and strornal fibrosis. There were no signs of either iridocorneal adhesions or corneal inflammation (Fig. 4).
DISCUSSION Corneal leucomas with a defect in Descemet’s membrane and absent endothelium of the central cornea were first described in the 19th century. Based on histological examination Townsend proposed a classification of eyes with a central defect in Descemet’s membrane-’.4. In 1975 Waring presented his stepladder classification of abnormalities in the anterior chamber cleavage syndrome, also known as mesodermal dysgenesis of the iris and On anatomical grounds the anomalies of the anterior segment were divided into a group with central and a group with
peripheral anomalies. A third group combines the findings of the central and the peripheral group. The most prominent feature of the central group is a defect of the endothelium and Descemet’s membrane with opacification (leucoma) of the overlying cornea. In o u r patient the central defect in Descemet’s membrane was not aligned with the pupillary space. The curling termination of Descemet’s membrane at the edge of the crater-like defect is suggestive of a rupture due to congenital glaucoma with secondary corneal changes. However, in contrast with the semicircular defects in Descemet’s membrane (which are commonly limbus parallel) due to congenital glaucoma or birth trauma, the crater-like shaped defect is consistent with a developmental defect as reported by Peters’.
21
C. A. Eggink et al.
Downloaded by [La Trobe University] at 00:24 22 May 2016
~~
The corneal edema is the result of an unlimited inflow of aqueous humor into the corneal stroma where there is absence of the endothelium and of Descemet’s membrane. Peripheral vascularization is also consistent with Peters’ anomaly. The histologic features are consistent with Peters’ anomaly. Congenital hereditary endothelial dystrophy and posterior keratoconus were ruled out on clinical and histopathological grounds8-l0. In the wide range of presentations of Peters’ anomaly our patient can be diagnosed as a Peters’ anomaly with a posterior corneal defect but without keratolenticular and iridocorneal adhesions or iris and lens anomalies. Only a few well-documented cases of this type of Peters’ anomaly have been described5* I I , to which this case can be added. In Peters’ anomaly glaucoma is not an unusual finding. Glaucoma may occur as an infantile type, presenting before the age of six years in 50% of the cases, as a juvenile type or as a late complication after corneal grafting5*] I . The first weeks or months of life are extremely 7’
important in the development of the visual system. In Peters’ anomaly the peripheral borders of the leucoma may clear up with time but the central opacity still constitutes an impediment for visual development. Surgical intervention should be done as early as possible in order to prevent severe amblyopia. The problems of corneal grafting in newborn infants can be summarized as follows”*l 2 : - the surgical procedure is technically difficult because of decreased rigidity and increased elasticity of the structures; - the parents must be instructed about possible complications in order to prevent unnecessary delays in treatment; - wound healing is quick. Usually the sutures can be removed within two months; - the risk of graft rejection may be increased. Peters’ anomaly is inherited as an autosomal recessive trait. Sporadic or simplex cases have been reported. In our patient the first cousin consanguinity favours an autosomal recessive inheritance.
REFERENCES 1. Von Hippel E : Ueber Hydrophthalmus congenitus. Graefe’s Arch Ophthalmol 44: 539-564, 1897 2. Peters A : Ueber angeborene Defektbildung der Descemetschen Membran. Klin Mbl Augenheilk 44: 27-40, 1906 3 . Townsend W M : Congenital corneal leucomas. I . Central defect in Descemet’s membrane. Am J Ophthalmol 77: 80-86, 1974 4 . Townsend WM, Font RL, Zimrnerman LE: Congenital corneal leucomas. 2. Histopathologic findings in 19 eyes with central defect in Descemet’s membrane. Am J Ophthalmol 77: 192-206, 1974 5 . Waring G O : Anterior chamber cleavage syndrome. A stepladder classification. Surv Ophthalmol 20: 3-27, 1975 6. Alkemade PPH : Dysgenesis Mesodermatis of the Iris and the Cornea. Assen. The Netherlands : Van Gorcum & Comp 1969 7. Waring GO, Rodriquez MM : Congenital and neonatal corneal abnormalities. In : Jakobiec FA (ed): Ocdur Anatomy, Embryology and Terafology, pp 167-196. Philadelphia: Harper and Row 1982 8 . Kenyon KR : Mesenchymal dysgenesis in Peters’ anomaly, sclerocornea and congenital endothelial dystrophy. Exp Eye Res 21 : 125-142, 1975 9. Krachmer J H , Kodriquez MM : Posterior keratoconus. Arch Ophthalmol 96: 1867-1873, 1978 10. Wolter JR, Haney WP : Histopathology of keratoconus posticus circumscriptus. Arch Ophthalmol 6 9 : 357-362. 1963 11. Schantzlin DJ, Goldberg DB, Brown SI : Transplantation of congenitally opaque corneas. Ophthalmology 87 : 1253-1264, 1980 12. Stulting DJ, Sumers KD, Cavanagh HD, Waring GO, Gammon JA : Penetrating keratoplasty in children. Ophthalmology 91 : 1222-1230. 1984
22
