Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.
OBJECTIVE
To identify the phenotypic variations in 6 related individuals affected by a novel mutation in the retinal degeneration slow/peripherin gene.


METHODS
Ten family members underwent ophthalmologic assessment with slit-lamp biomicroscopy, dilated fundus examination, fundus photography, autofluorescence imaging and electrophysiological tests. Genomic DNA was extracted from blood samples of all family members (n = 15) using the standard salting-out procedure.


RESULTS
The novel C165R mutation was identified in 8 individuals. Of these 8 patients, only 6 gave consent to the clinical study. They had a retinal disease characterized by an adulthood onset of symptoms, and their best corrected visual acuity was between 20/50 and 20/20. Fundus examination showed that 3 patients had typical fundus flavimaculatus: 1 had butterfly-shaped pattern dystrophy and 2 had incipient retinal changes.


CONCLUSIONS
We identified a novel mutation of the retinal degeneration slow/peripherin gene in a family affected by different patterns of retinal dystrophy. This is the first report of an association of fundus flavimaculatus with butterfly-shaped pattern dystrophy.
Simonelli
Francesca
F
Department of Ophthalmology, Second University of Naples, Naples, Italy. franctes@tin.it
Testa
Francesco
F
Marini
Valeria
V
Interlandi
Emanuela
E
Rossi
Settimio
S
Pognuz
Derri Roman
DR
Virgili
Gianni
G
Garrè
Cecilia
C
Bandello
Francesco
F
D000368:Aged; D001120:Arginine; D003545:Cysteine; D004585:Electrooculography; D004596:Electroretinography; D005453:Fluorescence; D005654:Fundus Oculi; D018740:Genetic Heterogeneity; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; D064531:Peripherins; D001120:Arginine; D003545:Cysteine