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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...

Topics

Adult
Aged
Amino Acid Substitution
Disease Progression
Electroretinography
Female
Fluorescein Angiography
Fundus Oculi
Genes, Dominant
Humans
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Retinitis Pigmentosa

Rhodopsin

Vision, Ocular

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 30 Aug 2026. Prepared record publication-9810568-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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