Sorsby's pseudoinflammatory macula dystrophy--Sorsby's fundus dystrophies

Abstract

The findings are presented on the updated Kempster pedigree with Sorsby's fundus dystrophy. The study confirms the features described in other families: autosomal dominant inheritance with complete penetrance, loss of central vision due to subfoveal ingrowth of new vessels, and progressive peripheral chorioretinal atrophy. By contrast to other reports the family in the current study have peripheral retinal dysfunction, a deposit of a subretinal yellow material throughout the fundus and a tritan colour defect, all prior to the loss of central vision; in some patients there was loss of central vision from atrophic disease, rather than from ingrowth of subretinal new vessels; and, there was a different temporal progression of the central subretinal neovascular complex. These features suggest the possibility of genetic heterogeneity.