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

• Published in: Investigative ophthalmology & visual science Vol. 64; no. 12; p. 26
• Main Authors: Seguy, Paul-Henri, Korobelnik, Jean-François, Delyfer, Marie-Noëlle, Michaud, Vincent, Arveiler, Benoit, Lasseaux, Eulalie, Gattoussi, Sarra, Rougier, Marie-Bénédicte, Trin, Kilian, Morice-Picard, Fanny, Ghomashchi, Nathalie, Coste, Valentine
• Format: Journal Article
• Language: English
• Published: The Association for Research in Vision and Ophthalmology, Inc 01.09.2023; The Association for Research in Vision and Ophthalmology
• Subjects: Genetics; Life Sciences; Santé publique et épidémiologie; genetic diseases; choroid; foveal hypoplasia; OCT; albinism

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' g...