A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
Publication year
2003Source
Archives of Ophthalmology, 121, 10, (2003), pp. 1452-7ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Ophthalmology
Human Genetics
Journal title
Archives of Ophthalmology
Volume
vol. 121
Issue
iss. 10
Page start
p. 1452
Page end
p. 7
Subject
UMCN 3.3: Neurosensory disorders; UMCN 5.1: Genetic defects of metabolismAbstract
OBJECTIVE: To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits. METHODS: All family members underwent an ophthalmic examination, and their genomic DNA was screened for mutations in the human retinal degeneration slow (peripherin/RDS) and rhodopsin genes. In selected cases, fluorescein angiography and electrophysiologic testing were performed. RESULTS: The age at onset of the disease was between the third and fourth decades of life, starting with mild visual acuity loss and periods of metamorphopsia. Clinical signs included subretinal yellowish macular deposits evolving into geographic atrophy and retinal hypopigmentation and hyperpigmentation. Electroretinography demonstrated rod dysfunction, and electro-oculograms were mildly to severely disturbed. All affected members were found to carry a 3-base pair deletion affecting codon 169 of the peripherin/RDS gene. This mutation resulted in an asparagine (Asn) deletion in the peripherin/RDS protein and was not found in 155 control individuals. CONCLUSION: A deletion of Asn169 in the peripherin/RDS protein causes a peculiar form of autosomal dominant macular dystrophy in a large family from the Netherlands. CLINICAL RELEVANCE: Characterizing the phenotype and genotype in this family may, in the long term, result in a better understanding of the precise mechanism underlying this retinal degeneration.
This item appears in the following Collection(s)
- Academic publications [227883]
- Faculty of Medical Sciences [86219]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.