Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.
OBJECTIVE
To describe the clinical features of and identify the mutation responsible for an autosomal dominant pattern dystrophy occurring in a three-generation family.


METHODS
Five affected family members underwent clinical examination and additional testing including intravenous fluorescein angiography where indicated. Mutation screening of the peripherin/RDS gene was performed.


RESULTS
Visual acuity ranged from 20/20 to counting fingers. All patients who reported vision loss noted the onset after the age of 40 years. Predominantly perifoveal, discrete, retinal pigment epithelial changes were present in all patients. Two patients had extensive peripheral yellowish flecks, and one had an atrophic macular scar. Mutation screening of the complete peripherin/RDS coding sequence and exon/intron boundaries revealed a novel splice site mutation.


CONCLUSIONS
A three-generation family with an autosomal dominant pattern dystrophy arising from a previously unreported splice site mutation in the RDS gene is described.
Khoubian
Farzad J
FJ
Henry and Corinne Bower Laboratory, the Eye Research Institute, the International Retinal Research Foundation, and Wills Eye Hospital, Philadelphia, PA 19107, USA.
Shakin
Eric P
EP
Tantri
Avinash
A
Kim
David Y
DY
Edwards
Albert O
AO
Donoso
Larry A
LA
D000328:Adult; D017668:Age of Onset; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites / Q000235:genetics*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D022821:RNA Splice Sites