title: Leber congenital amaurosis in an infant with Down syndrome.
abstract: A male infant had defects of atrial and ventricular septa and trisomy 21. At 2 months of age, the patient had markedly sluggish pupillary reactions to light OU. Searching nystagmus, multiple chorioretinal atrophic spots in mottled retinas, and unrecordable electroretinograms also were found in the patient when he was 6 months of age. We believe that this infant represents a rare case of Leber congenital amaurosis in association with Down syndrome.
authors.affiliation: Department of Ophthalmology, Shimane Medical University, Izumo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hayasaka
authors.forename: S
authors.initials: S
authors.lastname: Noda
authors.forename: T
authors.initials: T
authors.lastname: Setogawa
authors.forename: Y
authors.initials: Y
authors.lastname: Tagusa
authors.forename: K
authors.initials: K
authors.lastname: Kishida
mesh_terms: D001284:Atrophy; D001766:Blindness / Q000150:complications / Q000151:congenital*; D004314:Down Syndrome / Q000150:complications*; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008297:Male; D009896:Optic Atrophy / Q000150:complications*; D012171:Retinal Vessels / Q000002:abnormalities*