[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].
OBJECTIVE
Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out.


METHODS
A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis.


RESULTS
No mutation was found in any of the family members.


CONCLUSIONS
Mutations in other genes may be involved in retinal dystrophies.
Benítez Del Castillo JM
Instituto Investigaciones Oftalmológicas Castroviejo, Universidad Complutense de Madrid, Fundación Jiménez Díaz, Universidad Autónoma de Madrid, España.
Trujillo
M J
MJ
Del Río T
García
B
B
Ayuso
C
C
García Sánchez J
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D064531:Peripherins; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012243:Rhodopsin