title: Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
abstract: A family composed of 13 affected members in five generations (10 patients from four generations examined) had vitreal and ophthalmoscopic findings characteristic of autosomal dominant vitreoretinochoroidopathy, as described in two previous kindreds. Visual acuity was 20/25 or better in all but one patient. All affected individuals had vitreous liquefaction with or without peripheral vitreal condensations. Peripheral pigmentary changes and choroidal atrophy were characteristic. Six patients developed cataracts in their early 40s that required extraction. One patient had glaucoma, one developed a retinal detachment, and one had a spontaneous vitreous hemorrhage. Autosomal dominant vitreoretinochoroidopathy is a well-defined condition featuring presenile cataracts, vitreal degeneration, characteristic ophthalmoscopic findings, and good visual prognosis.
authors.affiliation: Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Md 21205.
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: J W
authors.initials: JW
authors.lastname: Payne
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002386:Cataract / Q000453:epidemiology / Q000209:etiology; D002648:Child; D015862:Choroid Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree; D011379:Prognosis; D012029:Refraction, Ocular; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity; D014822:Vitreous Body