Leber’s congenital amaurosis /lā″bərz/ [Theodor von Leber, German ophthalmologist, 1840–1917; L, congenitus, born with; Gk, amauroein, to darken] , a rare kind of blindness or severely impaired vision caused by a defect transmitted as an autosomal-recessive trait and occurring at birth or shortly thereafter. The eyes appear normal externally, but pupillary constriction to light is sluggish or absent, and electroretinographic responses are decreased or absent. Pendular nystagmus, photophobia, cataract, and keratoconus may be present; the ophthalmic disorder may be associated with cognitive impairment and epilepsy. One type of Leber’s amaurosis results in complete blindness. In a second kind the pathology does not progress, and the patient has very mild vision loss.
