Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation.

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Article

Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation.

Annals of the Academy of Medicine, Singapore - 1 Jun 2006

Chen Haoyu, Chen Yali, Horn Rachael, Yang Zhenglin, Wang Changguan, Turner Matthew J, Zhang Kang

Abstract excerpt

INTRODUCTION: Retinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identify the...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Child
Female
Genes, Dominant
Humans
Male
Middle Aged
Mutation
Pedigree
Retinitis Pigmentosa
Rhodopsin

Source

Open in PubMed

Identifiers

PMID: 16865192

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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