title: Analysis of the rhodopsin and peripherin/RDS gene in two families with pattern dystrophy of the retinal pigment epithelium.
abstract: Mutations of the peripherin/retinal degeneration slow (RDS) gene have been reported in autosomal dominant retinitis pigmentosa and variable forms of pattern dystrophy of the retinal pigment epithelium. We screened the rhodopsin and the peripherin/RDS gene in the members of two families who presented the clinical features of pattern dystrophy of the retinal pigment epithelium transmitted as an autosomal dominant trait. No migration patterns were detected in single strand conformation polymorphism or hydrolink gels. Both the rhodopsin and the peripherin/RDS gene were normal in one family. In the second, the proband had a normal rhodopsin gene and, although he passed a different haplotype to each of his affected daughters, there was no linkage with the peripherin/RDS gene. The origin of the retinal disturbance in our two pedigrees must therefore be sought, if indeed DNA is involved, elsewhere in the genome. Our findings provide additional evidence that pattern dystrophies of the retinal pigment epithelium may be pathogenically related in spite of different etiological origins. The genetic polymorphism can probably account for the wide range of phenotypes.
authors.affiliation: Department of Medico-Surgical Specialities, University of Perugia, School of Medicine, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Daniele
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: C
authors.initials: C
authors.lastname: Daniele
authors.forename: A
authors.initials: A
authors.lastname: Nardacchione
authors.forename: P
authors.initials: P
authors.lastname: Danese
authors.forename: A
authors.initials: A
authors.lastname: Carbonara
mesh_terms: D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012243:Rhodopsin