title: Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy.
abstract: Two dominantly inherited macular dystrophies demonstrate the difficulty in establishing a diagnosis based on the fundus appearance. In 1 family the propositus presented with unilateral retinal haemorrhage associated with subretinal choroidal neovascularisation which remained unilateral over an 8-year period. In the other family the propositus presented with bilateral central choroidal atrophy. All affected family members had an abnormal electro-oculogram and a normal electroretinogram, suggesting the diagnosis of vitelliform macular dystrophy. Since vitelliform macular dystrophy has a wide range of expressivity, with polymorphous appearances of the fundus, the diagnosis is best made by the presence of a dominant mode of inheritance and an abnormal electro-oculogram.
mesh_terms: D000328:Adult; D001284:Atrophy; D002829:Choroid / Q000473:pathology; D004585:Electrooculography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012171:Retinal Vessels / Q000473:pathology