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Article

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Human genetics - 1 Dec 2024

Cortés-González Vianney, Rodriguez-Morales Miguel, Ataliotis Paris, Mayer Claudine, Plaisancié Julie, Chassaing Nicolas, Lee Hane, Rozet Jean-Michel, Cavodeassi Florencia, Fares Taie Lucas

Abstract excerpt

Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms, be associated with additional ocular abnormalities. It can occur in isolation or as part of a broader syndrome, exhibiting considerable genetic heterogeneity. Diagnostic yield for OC remains below 30%, indicating the need for further genetic...

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PMID: 39503780
DOI: 10.1007/s00439-024-02712-y
PMCID: PMC11576812

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