Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.

ABSTRACT:

Purpose

Albinism is a group of genetic disorders that includes several conditions related to a defect in melanin production. There is a broad phenotypic and genotypic variability between the different forms. The aim of this study was to assess the ophthalmologic characteristics according to patients' genotypes in a cohort followed in the Reference Center for oculocutaneous albinism (OCA) of Bordeaux University Hospital, France.

Methods

A retrospective observational study was conducted in a cohort of patients with OCA seen in consultation in the ophthalmology department between 2017 and 2021 in whom a genetic analysis was performed.

Results

In total, 127 patients with OCA were included in this study and matched with the results of the genetic analysis. In the populatio

SUBMITTER: Seguy PH 

PROVIDER: S-EPMC10506686 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature