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Abstract #55323 Published in IGR 15-4
Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations
Khan AO; Aldahmesh MA; Mohamed JY; Alkuraya FSJournal of AAPOS 2013; 17: 643-645
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.
Full article
Classification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
2.2 Cornea (Part of: 2 Anatomical structures in glaucoma)
