PT  - JOURNAL ARTICLE
AU  - I M Russell-Eggitt
AU  - D S Taylor
AU  - P T Clayton
AU  - A Garner
AU  - A Kriss
AU  - J F Taylor
TI  - Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.
AID  - 10.1136/bjo.73.4.250
DP  - 1989 Apr 01
TA  - British Journal of Ophthalmology
PG  - 250--254
VI  - 73
IP  - 4
4099  - http://bjo.bmj.com/content/73/4/250.short
4100  - http://bjo.bmj.com/content/73/4/250.full
SO  - Br J Ophthalmol1989 Apr 01; 73
AB  - 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.