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Corneal enlargement during the first 3 years of life can be a sign of early childhood glaucoma and optic nerve head cupping is a useful confirmatory finding. We report 3 children with corneal enlargement without optic nerve head cupping who had recessive CYP1B1 mutations, the most common identifiable cause of primary congenital glaucoma. One child later developed unilateral Haab striae, still in the absence of optic disk cupping. These cases illustrate that CYP1B1-related corneal changes can occur in young children without visible optic nerve head damage., (Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

Background: Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far., Purpose: To identify CTNS mutations in Arab cystinosis patients., Methods: In this study, we have analyzed the mutational spectrum of CTNS in a population of 21 patients from 13 families of Arab origin. The entire coding region and flanking intronic regions of CTNS were analyzed by direct sequencing., Results: Eight mutations were identified, four of which are novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del)., Conclusion: These alleles will provide the basis for routine molecular diagnosis of cystinosis in the region.

Purpose: To report corneal decompensation in 3 patients with recessive cornea plana., Methods: Retrospective case series., Results: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X])., Conclusions: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.