 |
|
Deletion in the Peripherin/RDS Gene in Two Unrelated Sardinian Families With Autosomal Dominant Butterfly-Shaped Macular Dystrophy
Maurizio Fossarello, MD;
Chiara Bertini, PhD;
Maria Silvana Galantuomo, PhD;
Antonio Cao, MD;
Antonina Serra, MD;
Mario Pirastu, MD
Arch Ophthalmol. 1996;114(4):448-456.
Abstract
Background
Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. We studied the phenotype of two families with a novel large deletion in the peripherin/RDS gene.
Methods
Clinical study, fluorescein angiography, color vision testing, automatic perimetry, electrophysiologic studies, and DNA analysis were performed on all the members of the two families.
Results
Fundus examination in patients aged 30 to 60 years showed yellow deposits in the macula with a butterfly-shaped pattern. Central choroidal atrophy was present in the older patients only. Macular visual function tests (color vision and central visual field) were abnormal, and electro-oculograms were slightly subnormal in five individuals tested. Electroretinograms and results of dark adaptometry were normal. Linkage analysis with intragenic polymorphic markers and quantitative polymerase chain reaction showed heterozygosity for a large deletion that removed exons 2 and 3 of the peripherin/RDS gene in all affected members of the two families.
Conclusions
This deletion escaped detection by direct analysis of amplified exons and was identified by intragenic polymorphic markers analysis, resulting in loss of heterozygosity from affected parents to affected children, and by quantitative polymerase chain reaction. The delineation of the molecular defect associated with the disease in these two families allows us to verify the presence or absence of the disease in clinically unaffected members.
Author Affiliations
From the Institution of Clinical Ophthalmology (Drs Fossarello, Galantuomo, and Serra) and the Institution of Clinical Biology and Developmental Age (Dr Cao), University of Cagliari (Italy); and Research Institute on Thalassemias and Mediterranean Anemias, National Research Council, Alghero, Italy (Drs Bertini, Cao, and Pirastu). Dr Pirastu is now with the Institute of Molecular Genetics, National Research Council, Alghero.
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
Leroy et al.
Br J Ophthalmol 2007;91:89-93.
ABSTRACT
| FULL TEXT
Genetic and phenotypic heterogeneity in pattern dystrophy
Francis et al.
Br J Ophthalmol 2005;89:1115-1119.
ABSTRACT
| FULL TEXT
A novel mutation in the RDS gene in an Italian family with pattern dystrophy
Testa et al.
Br J Ophthalmol 2005;89:1066-1068.
FULL TEXT
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2
den Hollander et al.
J. Med. Genet. 2004;41:699-702.
FULL TEXT
Modulating Expression of Peripherin/rds in Transgenic Mice: Critical Levels and the Effect of Overexpression
Nour et al.
IOVS 2004;45:2514-2521.
ABSTRACT
| FULL TEXT
Butterfly-Shaped Pattern Dystrophy: A Genetic, Clinical, and Histopathological Report
Zhang et al.
Arch Ophthalmol 2002;120:485-490.
ABSTRACT
| FULL TEXT
Clinical Features of Codon 172 RDS Macular Dystrophy: Similar Phenotype in 12 Families
Downes et al.
Arch Ophthalmol 1999;117:1373-1383.
ABSTRACT
| FULL TEXT
|
