Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

ABSTRACT: Defects in optic fissure closure can lead to congenital ocular coloboma. This ocular malformation, often associated with microphthalmia, is described in various clinical forms with different inheritance patterns and genetic heterogeneity. In recent times, the identification of an increased number of genes involved in numerous cellular functions has led to a better understanding in optic fissure closure mechanisms. Nevertheless, most of these genes are also involved in wider eye growth defects such as micro-anophthalmia, questioning the mechanisms controlling both extension and severity of optic fissure closure defects. However, some genes, such as FZD5, have only been so far identified in isolated coloboma. Thus, to estimate the frequency of implication of different ocular genes, we screen

SUBMITTER: Aubert-Mucca M 

PROVIDER: S-EPMC7853074 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature