Congenital aphakia in Peters' anomaly syndrome

Abstract

ABSTRACT.The authors report a case of congenital bilateral corneal opacities in which one of the eyes was enucleated because of malignant glaucoma and corneal perforation. Corneal defects and iridocorneal adhesion were found, but aphakia was the major pathologic ocular finding. The clinical picture and pathology study indicated this case as a Peters' anomaly presenting congenital aphakia. eters' anomaly is a congenital disease P that affects mainly the posterior cornea (Alkemade 1969). It is most often bilateral and characterized by localized defects in the endothelium and Descemet's membrane resulting in corneal clouding (Naganishi & Brown 1971). Iris and/or lens adhesion to the cornea are described together with absence of endothelium and Descemet's membrane (Stone et al. 1976).To our knowledge congenital aphakia associated with Peters' anomaly has only been reported in one case affected unilaterally, described by Harris et al. (1980). We describe the clinical findings of a 6-day-old newborn observed in our department, affected by bilateral corneal opacities, malignant glaucoma and unilateral aphakia.The authors also report the histopathological aspects of the eye that underwent enucleation due to refractory increased IOP and corneal perforation. Materials and MethodsA 6-day-old newborn boy was examined in our department for bilateral corneal leucoma. He underwent examination under anaesthesia (EUA). Slit-lamp biomicroscopy, applanation tonometry and ocular B-scan ultrasonography were performed. Retinal and optic nerve functions were evaluated by means of ERG and VEP. A complete pediatric work-up was carried out, including karyotype examination. Six days after the first examination the right eye was enucleated and examined histopathologically. ResultsClinical inspection showed exophthalmos of the right eye.Slit-lamp examination revealed bilateral vascularized leucoma associated with a central corneal ectasia of the right eye. The corneal diameter was 24 m RE and 11 rnm LE. IOP was 33 mmHg RE and 28 mmHg LE. Fundus examination was not possible due to corneal opacities. Ultrasonography showed an axial length of 24.5 mm RE and 16.5 mm LE. In the RE B-scan ultrasonography revealed an enlargement of the globe and aphakia. No abnormal echos were detected in the vitreal cavity and the retina appeared to be attached. In the LE ultrasonography was within normal limits. Photopic ERG was extinguished in the RE and extremely reduced in amplitude in the LE. Flash VEP was not obtainable in either eye. No anomalies were detected by the pediatric work-up. Routine hematologic exam was within normal limits including the TORCH complex, VDRL and TPHA. The karyotype was 46XY.Macroscopic examination of the enucleated right eye revealed abnormal anterior segment structures which included: corneal leukoma, iris and ciliary body atrophy. The lens was not detected (Fig. A histopathological study showed that corneal thickness was extremely enlarged. The collagen bundles of the stroma were swollen and densely stained. In the central port...

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