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Article

Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.

Ophthalmic genetics - 1 Jun 2012

Kim Cinoo, Chung Hum, Yu Hyeong Gon

Abstract excerpt

PURPOSE: To describe early-onset cystoid macular edema (CME) in a family with retinitis pigmentosa (RP) due to the p.P347L in the rhodopsin gene (RHO). METHODS: All affected family members, including a 44-year-old mother and four children in their teens (two daughters, 17 and 15 years old, and two sons, 13 and 11 years old), have a mutation of p.P347L in RHO. Funduscopy, Goldmann perimetry, spectral domain...

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Source

Identifiers

PMID: 22217031
DOI: 10.3109/13816810.2011.642453

Genes

RHO
ERG

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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