Autosomal dominant vitreoretinochoroidopathy. Report of the third family
E. I. Traboulsi and J. W. Payne
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Md 21205.
A family composed of 13 affected members in five generations (10 patients
from four generations examined) had vitreal and ophthalmoscopic findings
characteristic of autosomal dominant vitreoretinochoroidopathy, as
described in two previous kindreds. Visual acuity was 20/25 or better in
all but one patient. All affected individuals had vitreous liquefaction
with or without peripheral vitreal condensations. Peripheral pigmentary
changes and choroidal atrophy were characteristic. Six patients developed
cataracts in their early 40s that required extraction. One patient had
glaucoma, one developed a retinal detachment, and one had a spontaneous
vitreous hemorrhage. Autosomal dominant vitreoretinochoroidopathy is a
well-defined condition featuring presenile cataracts, vitreal degeneration,
characteristic ophthalmoscopic findings, and good visual prognosis.
