Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
Paul-Henri Seguy,
Jean-François Korobelnik,
Marie-Noëlle Delyfer
et al.
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 stud… Show more
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