title: Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
abstract: OBJECTIVE
  To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. Because clinical heterogeneity was observed in this family, with some members affected with retinitis punctata albescens and one member affected with features typical of retinitis pigmentosa, we analyzed the apolipoprotein E gene to elucidate this unusual intrafamilial heterogeneity.
  
  
  METHODS
  The coding sequences of these genes were analyzed with a combination of single-strand conformation polymorphism and direct sequence analysis. Haplotypes of the apolipoprotein E gene were analyzed by polymerase chain reaction and enzymatic digestion.
  
  
  RESULTS
  The Arg135Trp mutation in the rhodopsin gene was observed in all affected members of this family, but no mutation was detected in the peripherin/RDS or ROM1 genes. The e4 allele of the apolipoprotein E gene apparently cosegregated with the albescens phenotype in this family.
  
  
  CONCLUSIONS
  The albescent phenotype in retinal dystrophy appears to not be caused exclusively by a peripherin/RDS gene mutation, and we suggest that the apolipoprotein E gene may play a role in the albescent phenotype.
authors.affiliation: Genetics Laboratory INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Souied
authors.forename: G
authors.initials: G
authors.lastname: Soubrane
authors.forename: P
authors.initials: P
authors.lastname: Benlian
authors.forename: G J
authors.initials: GJ
authors.lastname: Coscas
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001057:Apolipoproteins E / Q000235:genetics; D001120:Arginine; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012162:Retinal Degeneration / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D012374:Rod Cell Outer Segment; D059470:Tetraspanins; D014364:Tryptophan
chemical_list: D001057:Apolipoproteins E; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C513106:ROM1 protein, human; D059470:Tetraspanins; D014364:Tryptophan; D004247:DNA; D012243:Rhodopsin; D001120:Arginine