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Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.

Progress in retinal and eye research - 1 Sept 2023

Gocuk Sena A, Jolly Jasleen K, Edwards Thomas L, Ayton Lauren N

Abstract excerpt

Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss. The relationships between individual genetic mutations and disease...

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Identifiers

PMID: 37406879
DOI: 10.1016/j.preteyeres.2023.101190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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