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Article

EYS-Associated Sector Retinitis Pigmentosa.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Apr 2022

Marques João Pedro, Porto Fernanda Belga Ottoni, Carvalho Ana Luísa, Neves Emmanuel, Chen Rui, Sampaio Shirley Aparecida Madureira, Murta Joaquim, Saraiva Jorge, Silva Rufino

Abstract excerpt

PURPOSE: Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene. METHODS: Multinational, multicentre cross-sectional case series. Patients with biallelic disease-causing variants in EYS and a clinical diagnosis of...

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PMID: 34568954
DOI: 10.1007/s00417-021-05411-w

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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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EYS-Associated Sector Retinitis Pigmentosa.PMID 34568954Read ↗

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RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model – In Preparation for Clinical TrialsSemantic proximity Read ↗

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