Hereditary hemorrhagic macular dystrophy.
Four members of a family with dominantly inherited macular dystrophy demonstrated the essential features of hereditary hemorrhagic macular dystrophy. They reported decreased visual acuity in the third decade and eventually developed bilateral disease. Fundus evaluations revealed hemorrhagic and exudative maculopathy associated with pigment atrophy, pigment clumping, and eventual glial scar formation. Early stages of the disease manifested a macular subretinal neovascular network. Photocoagulation treatment of subretinal neovascularization was successful in Case 3, unsuccessful in Case 1. Follow-up of these four brothers lasted over a period of two to 12 years. After they reached the cicatricial phase, the size of the lesion and visual symptoms remained stable. Visual function tests in the early and late stages indicated a local or geographic disease. We differentiated this dystrophy from other hereditary causes for subretinal neovascularization. We recommend early obliteration of the subretinal neovascular network with intense photocoagulation because the outcome of untreated hereditary hemorrhagic macular dystrophy is legal blindness.
D000328:Adult; D000793:Angioid Streaks / Q000175:diagnosis; D001808:Blood Vessels / Q000254:growth & development; D002829:Choroid / Q000098:blood supply; D003937:Diagnosis, Differential; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009216:Myopia / Q000175:diagnosis; D009896:Optic Atrophy / Q000175:diagnosis; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D012166:Retinal Hemorrhage / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014603:Uveal Diseases / Q000175:diagnosis