Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
OBJECTIVE
To describe the clinical and molecular genetic findings in members of a family with features of autosomal dominant retinitis pigmentosa (RP) and pattern dystrophy.


METHODS
Members of a four-generation family underwent ophthalmoscopic examination, electrophysiologic testing, and screening of blood samples for rhodopsin and peripherin/RDS mutations.


RESULTS
Three members of the family had clinical evidence of both RP and pattern dystrophy, and another family member had symptoms suggestive of RP. In one case of pattern dystrophy, pigment deposition in an unusual ring-like configuration was seen. All affected family members were found to have a Pro216Ser mutation in the peripherin/RDS gene on chromosome 6p, a mutation not found in unrelated (normal) spouses or in a normal control population.


CONCLUSIONS
In members of this family, both autosomal dominant RP and pattern dystrophy were associated with a Pro216Ser mutation in the peripherin/RDS gene.
Richards
S C
SC
Ophthalmology Associates, Ogden, Utah, USA.
Creel
D J
DJ
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6; D005136:Eye Proteins / Q000235:genetics*; 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; D011392:Proline; D012160:Retina / Q000502:physiology; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012694:Serine
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012694:Serine; D011392:Proline