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Article

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Ophthalmic genetics - 1 Sept 1998

Millá E, Héon E, Grounauer P A, Piguet B, Ducrey N, Stone E M, Schorderet D F, Munier F L

Abstract excerpt

PURPOSE: The RHO C110Y mutation has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP). The study of a family affected with this mutation allowed us to hereby describe the genotype/phenotype correlation associated with the RHO C110Y mutation. METHODS: A six-generation pedigree cosegregating adRP and RHO C110Y in ten accessible individuals was...

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Source

Identifiers

PMID: 9810568
DOI: 10.1076/opge.19.3.131.2183

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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