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Article

Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2024

Krishnamurthy Rashmi, Senthil Sirisha, Balasubramanian Jeyapoorani, Ramappa Muralidhar

Abstract excerpt

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.

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Source

Identifiers

PMID: 39278530
DOI: 10.1016/j.jaapos.2024.104001

Genes

PRDM5

Provenance

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