Purpose: To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
Methods: Total area of geographic atrophy in 18 affected individuals with the peripherin/RDS Arg172Trp substitution was measured from retinal photographs and plotted as a function of age. Visual acuity data from these individuals were collated with previously published cases of Arg172Trp substitution to obtain age-related estimates of visual acuity. These were compared with published series with the Arg142Trp, Arg172Gln, and Arg195Leu substitutions, using linear regression.
Results: In patients with the Arg172Trp substitution, the increase in total area of chorioretinal atrophy and decline in visual acuity showed significant association with age (R2 = 0.619, P < 0.001; R2 = 0.761, P < 0.001). A trend was observed toward earlier age at onset and worse visual acuity with the Arg172Trp substitution as compared with the Arg142Trp and Arg172Gln substitutions. Linear regression analysis showed that until the age of 60 years, at any given age, visual acuity with the Arg172Trp substitution was significantly worse than the Arg142Trp (P < 0.001) and the Arg172Gln substitutions (P = 0.04). Patients above the age of 60 years were excluded as a floor effect on visual acuity was observed with visual acuity being worse than 6/60 for most patients.
Conclusion: This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/IAE.0b013e318198dbed | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
Retina
May 2009
Department of Ophthalmology, St James's University Hospital, Leeds, United Kingdom.
Purpose: To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).
Methods: Total area of geographic atrophy in 18 affected individuals with the peripherin/RDS Arg172Trp substitution was measured from retinal photographs and plotted as a function of age. Visual acuity data from these individuals were collated with previously published cases of Arg172Trp substitution to obtain age-related estimates of visual acuity.
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Mol Vis
June 2007
Servicio de Laboratorio, Biología y Genética Molecular Hospital de Terrassa, Ctra. Torrebonica, Terrassa, Barcelona, Spain.
Purpose: Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy.
Methods: Ophthalmic and electrophysiological examination was performed in patients from 61 unrelated autosomal dominant macular dystrophy (adMD) Spanish families.
Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
Ophthalmology
September 2005
Institute of Ophthalmology, University College London, London, United Kingdom.
Purpose: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability.
Design: Family genetic study.
Participants: Nine affected individuals from a nonconsanguineous British family.
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ophthalmic Genet
September 1998
Department of Clinical Chemistry, University of Lund, Sweden.
Purpose: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene.
Methods: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family.
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
Ophthalmic Genet
December 1996
Hôpital Jules Gonin, Lausanne, Switzerland.
The objective of this study was to fully characterize the macular dystrophy phenotype and genotype in a large family of the Zermatt area of Switzerland. Clinical and molecular studies of the family included a comprehensive eye examination and a mutational analysis of the RDS, rhodopsin, and TIMP-3 genes. In selected cases, fluorescein angiography, perimetry, and electroretinography were performed.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!