Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
OBJECTIVE
To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS.


METHODS
DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT.


RESULTS
An Arg-46 --> stop codon conversion and a Ser-125 --> Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases.


CONCLUSIONS
By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001120:Arginine; D018388:Codon, Terminator; D004596:Electroretinography / Q000379:methods; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007930:Leucine; D008266:Macula Lutea / Q000473:pathology* / Q000503:physiopathology*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D008967:Molecular Biology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D012694:Serine; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D014794:Visual Fields
D018388:Codon, Terminator; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D012694:Serine; D001120:Arginine; D007930:Leucine