title: Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
abstract: Clinical phenotypes of patients with mutations in the human RDS/peripherin gene are described. A 67-year-old woman, who carried a 1 base pair deletion in codon 307, presented with typical late onset autosomal dominant retinitis pigmentosa (RP). In another autosomal dominant pedigree, a nonsense mutation at codon 46 caused 'inverse' retinitis pigmentosa-like fundus changes associated with progressive cone-rod degeneration in a 58-year-old man, whereas his 40-year-old son presented with yellow deposits in the retinal pigment epithelial layer resembling a pattern dystrophy, and with moderately reduced rod and cone function, as determined by two colour dark adapted threshold perimetry and electroretinography. It is suggested that both clinical pictures within this latter family may represent manifestations of fundus flavimaculatus. The clinical data of the three patients provide further evidence for the remarkable variety of disease expression within and between families with mutations in the RDS/peripherin gene. Currently, the most comprehensive statement could be that RDS/peripherin mutations are associated either with typical RP or with various forms of flecked retinal disease.
authors.affiliation: University Eye Hospital, Department of Pathophysiology of Vision and Neuro-ophthalmology, Tuebingen, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Apfelstedt-Sylla
authors.forename: M
authors.initials: M
authors.lastname: Theischen
authors.forename: K
authors.initials: K
authors.lastname: Rüther
authors.forename: H
authors.initials: H
authors.lastname: Wedemann
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: E
authors.initials: E
authors.lastname: Zrenner
mesh_terms: D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D003118:Color Perception / Q000502:physiology; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D012684:Sensory Thresholds / Q000502:physiology; D014794:Visual Fields
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins