[Macular vitelliform degeneration in adults. Retrospective study of a series of 85 patients]

Abstract

Since 1974 (Gass), many publications have referred to a macular abnormality that is similar to Best's vitelliform dystrophy, but occurs in adults and shows a normal or subnormal electro-oculogram. In our retrospective study, 85 patients with adult macular vitelliform degeneration were included; 31 patients out of 85 have been followed-up for periods ranging from one to ten years. Women (62,3%) were predominantly affected; the median age was 61 years (ranging from 37 to 81 years); family history did not reveal others affected members except in one case (mother and her son affected); electro-oculogram was recorded in 12 patients and was normal (8 patients) or slightly subnormal (4 patients). During follow-up, vitelliform lesions have shown progressive changes over many years, resulting in a round or oval atrophic area in the central retinal pigment epithelium. Visual acuity was fair at presentation but decreased progressively: at presentation, 43% of the eyes had visual acuity better or equal to 0.6; after 1 year, 59%; after 2 years, 28.5%; after 4 years, 20%, and only 8% of those followed-up for 10 years. Impairment of vision was usually related to alteration of the retinal pigment epithelium and macular atrophy, sometimes to subretinal neovascularization (14 eyes of 12 patients out of 157, or 15% of patients), or rarely to macular edema (2 cases). Several aspects of this disease are still controversial: firstly, the problem whether or not the disease represents a single nosological entity; secondarily its dominant inheritance. The analysis of our cases and of those already published seems to show that the macular changes observed are related to a single disease, well-defined by the epidemiology, the clinical aspects, the natural course. The late onset of the disease, the lack of constant familial involvement and the similarity with other retinal degenerative disorders seem to suggest that vitelliform macular lesions may represent a distinct subgroup of age-related macular degeneration, with a possible genetic predisposition.