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Article

Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females.

Ophthalmic genetics - 1 Apr 2022

Arce-Gonzalez Rocio, Chacon-Camacho Oscar F, Navas-Perez Alejandro, Gonzalez-Gonzalez María C, Martinez-Aguilar Alan, Zenteno Juan Carlos

Abstract excerpt

PURPOSE: X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in the CHRDL1 gene and it is inherited as an X-linked recessive trait affecting only males. Here, we describe the results of phenotypic and genetic assessment in a novel XMC pedigree....

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Identifiers

PMID: 34844512
DOI: 10.1080/13816810.2021.2002917

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