Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.
OBJECTIVE
To describe the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa, the locus of which has been mapped on chromosome 19q.


METHODS
Ophthalmologic testing, including visual acuity, slit-lamp biomicroscopy, and fundus examinations, for all family members examined. Selected members underwent kinetic visual field testing, electroretinography, and fluorescein angiography.


METHODS
Eleven symptomatic members, two asymptomatic obligate carriers, and nine nonaffected members in four generations of a single family with autosomal dominant retinitis pigmentosa.


RESULTS
Asymptomatic carriers showed mildly affected fundus and fluorescein angiographic images. Visual field testing disclosed restricted central and midperipheral fields. Electroretinograms disclosed reduced amplitudes of rod-isolated responses in both of these family members, indicating functional abnormalities.


CONCLUSIONS
Marked variability in expressivity of the retinitis pigmentosa phenotype was found in a family with autosomal dominant retinitis pigmentosa linked to chromosome 19q.
Nakazawa
M
M
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Xu
S
S
Gal
A
A
Wada
Y
Y
Tamai
M
M
D000368:Aged; D002888:Chromosomes, Human, Pair 19; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D008040:Genetic Linkage; D014644:Genetic Variation / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012160:Retina / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics; D014794:Visual Fields
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D004247:DNA; D012243:Rhodopsin