Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
OBJECTIVE
To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene.


METHODS
Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically.


METHODS
Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry, and dark adaptometry. Electrophysiological testing included flash and pattern electroretinography, as well as electrooculography.


RESULTS
Clinical findings ranged from subtle pigmentary changes at the level of the retinal pigment epithelium to more widespread pigmentary changes associated with choroidal neovascularization. Those with severe fundus changes exhibited greater abnormalities in psychophysical and electrophysiological testing than those with minimal fundus changes.


CONCLUSIONS
This particular peripherin/RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. The phenotypic expression is variable in a manner not explained by age.
Kim
R Y
RY
Institute of Ophthalmology and Moorfields Eye Hospital, London, England.
Dollfus
H
H
Keen
T J
TJ
Fitzke
F W
FW
Arden
G B
GB
Bhattacharya
S S
SS
Bird
A C
AC
D000368:Aged; D001482:Base Composition; D003062:Codon / Q000235:genetics*; D003118:Color Perception / Q000502:physiology; D003623:Dark Adaptation; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012160:Retina / Q000502:physiology; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D012684:Sensory Thresholds / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
D003062:Codon; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins