Juvenile vitreoretinal degeneration and retinal detachment.
The proband was a 10-year-old boy with bilateral retinal detachment. His mother had unilateral retinal detachment at age of 12. The eye disease occurred in eight family members, both men and women, in four consecutive generations suggesting autosomal dominant inheritance. The eye findings were seen at the age of 4 to 12 and included syneresis and posterior vitreous detachment; spotty areas of whitish, glistening degeneration, spotty hyperpigmentation, and greyish-white patches with pigmentations suggestive of healed retinochoroiditis in the peripheral retina. Retinal detachment with holes in the peripheral retina occurred in four family members, and three other family members had unilateral blindness since early childhood. In eyes without retinal detachment the visual acuity, visual fields, dark adaptation, and colour vision were normal.
D000328:Adult; D002648:Child; D005128:Eye Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012029:Refraction, Ocular; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014792:Visual Acuity; D014822:Vitreous Body