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Article

RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.

Ophthalmic genetics - 1 Aug 2022

Bedoukian Emma C, O'Neil Erin C, Aleman Tomas S

Abstract excerpt

BACKGROUND: We report on a patient with a juvenile-onset inherited retinal degeneration (IRD) associated with homozygous RP1 mutations inherited by uniparental disomy (UPD). MATERIAL AND METHODS: A 6-year-old healthy girl failed school vision screening and was diagnosed with a bull's eye maculopathy. She underwent complete ophthalmic examination, full-field electroretinograms (ERG), kinetic fields, full-field...

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Source

Identifiers

PMID: 35484846
DOI: 10.1080/13816810.2022.2062389

Provenance

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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