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Article

Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

Ophthalmic genetics - 1 Oct 2018

Mucciolo Dario Pasquale, Sodi Andrea, Passerini Ilaria, Murro Vittoria, Cipollini Francesca, Borg Isabella, Pelo Elisabetta, Contini Elisa, Virgili Gianni, Rizzo Stanislao

Abstract excerpt

PURPOSE: to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS: we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwent a comprehensive opthalmological examination. Additional investigation included color fundus...

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Source

Identifiers

PMID: 30153090
DOI: 10.1080/13816810.2018.1509351

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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