Oculo-oto-oro-reno-erythropoietic disease

General: Etiology unknown; slowly progressive course; ocular lesions similar to those of tuberous sclerosis, but no other signs of that disorder.

Ocular: Exotropia; progressive visual loss to complete blindness; secondary glaucoma with iris bombe; iridocyclitis; chronic uveitis; vitreous opacities; cataract; retinal hemorrhages and exudates.

Clinical: Anemia; atypical development of periodontia and teeth with caries; high-arched palate; abdominal colic; genu valgum and pectus excavatum; dizziness.

Jacobsen CD, Brodwall EK. A Clinical syndrome with inborn defect in erythropoiesis, dysplastic kidneys, eye lesions, malformation of the teeth and impaired hearing: a new syndrome in a 28 year old woman. Acta Med Scand 1974; 195:231.

McCance RA, et al. The cerebro-ocular-renal dystrophies: a new variant. Arch Dis Child 1960; 35:24.