Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome.
Seven related patients had a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. In addition, each patient had high hyperopia (+9.50 to +16.00) and nanophthalmos (axial lengths, less than 20 mm), with diffuse choroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. Chromosomes were normal. On electroretinographic testing, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times; older patients had severely diminished or extinguished electroretinograms. This family appears to represent a newly recognized autosomal-recessive syndrome.
D000328:Adult; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008269:Macular Edema / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity