Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.
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.
Russell-Eggitt
I M
IM
Department of Ophthalmology, Hospital for Sick Children, London.
Taylor
D S
DS
Clayton
P T
PT
Garner
A
A
Kriss
A
A
Taylor
J F
JF
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