Dominant macular subretinal neovascularization with peripheral retinal degeneration.
A previously undescribed dominant macular dystrophy was found in five individuals from a four-generation pedigree. According to family history, three additional individuals were similarly affected. The disease was characterized by loss of central vision from macular subretinal neovascularization in the third to fourth decade. Four of these individuals complained of nyctalopia beginning in childhood. All five were myopic. Funduscopic findings in the posterior pole included subretinal neovascular membranes and yellow punctate deposits appearing at the level of the retinal pigment epithelium (RPE). Mid-peripheral and equatorial retinal pigment clumping and pigment migration were also observed. Abnormalities of electrophysiologic testing were suggestive of an early retinal degeneration.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008266:Macula Lutea; D008297:Male; D008875:Middle Aged; D009389:Neovascularization, Pathologic / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D012162:Retinal Degeneration / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D012171:Retinal Vessels; D014785:Vision, Ocular; D058609:Visual Field Tests