Abstract

Five generations of a family with autosomal dominant atypical vitelliform macular dystrophy (A-VMD) were studied. This dystrophy is similar to autosomal dominant Best's vitelliform dystrophy (B-VMD) but clinically more closely resembles sporadic pseudovitelliform macular degeneration (P-VMD). Of the family members who were 14 years or older 43 (24 females and 19 males) of the 101 at risk (43%) were affected. Vision varied from 20/20 to 20/200. Field defects and tritan colour defects were invariably present only when vision was less than or equal to 20/200, but these defects were sometimes present when vision was good. The electrooculographic studies (LP/DT ratios) in this family were found to be normal or reduced and did not correlate with visual acuity. Minimal retinal findings consisted of macular or extramacular punctate yellow lesions or both in the retinal pigment epithelium, which were hypofluorescent by angiography, and retinal pigment epithelial defects in the temporal nerve fibre bundle, which were hyperfluorescent by angiography. Fluorescein angiographic changes were invariably present when retinal lesions were noted, and this was the most reliable test in identifying genotypically affected family members with minimal phenotypic expression.