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Abstract #120975 Published in IGR 25-1
Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5
Krishnamurthy R; Senthil S; Balasubramanian J; Ramappa MJournal of AAPOS 2024; 28: 104001
Brittle cornea syndrome type 2 is associated with corneal thinning, joint hypermobility, dental and skeletal issues, osteal fragility, and deafness. We present a rare association of congenital glaucoma with brittle cornea syndrome type 2 and keratoglobus in a patient with a novel PRDM5 gene mutation. Our case underscores the importance of genetic testing for early clinical diagnosis and tailored surgical approaches.
VST Glaucoma Centre, L V Prasad Eye Institute, Hyderabad, India.
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