Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis.

ABSTRACT: Congenital optic disc pits (ODPs) are well-circumscribed depressions within the optic disc. Thought to arise from anomalous closure of the optic fissure during embryonic development, they are now considered to lie on a broader spectrum of congenital optic disc anomaly (CODA). An increasing number of reports describe clustering of these cases within families, suggesting that inherited genetic elements play a role in disease predisposition. Here, we highlight the clinical features of 2 sets of father-son pairs affected with ODPs and provide preliminary molecular genetic analysis. Subjects underwent complete ophthalmological examination and imaging. In addition, whole-exome sequencing was carried out following informed consent. The resulting datasets were examined for potentially causal genet

SUBMITTER: Betsch D 

PROVIDER: S-EPMC8299373 | biostudies-literature | 2021 May-Aug

REPOSITORIES: biostudies-literature