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Article

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

Investigative ophthalmology & visual science - 1 Sept 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 37707835
DOI: 10.1167/iovs.64.12.26
PMCID: PMC10506686

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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