title: Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.
abstract: Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagmus, and have visual acuities of less than 6/60, with the eldest two having lost perception of light. They have a short obese habitus distinct from that of their unaffected siblings and parents.
authors.affiliation: Department of Ophthalmology, Hospital for Sick Children, London.
authors.forename: I M
authors.initials: IM
authors.lastname: Russell-Eggitt
authors.forename: D S
authors.initials: DS
authors.lastname: Taylor
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: A
authors.initials: A
authors.lastname: Garner
authors.forename: A
authors.initials: A
authors.lastname: Kriss
authors.forename: J F
authors.initials: JF
authors.lastname: Taylor
mesh_terms: D001766:Blindness / Q000150:complications / Q000151:congenital*; D009202:Cardiomyopathies / Q000150:complications*; D005192:Family Health; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006333:Heart Failure / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome