Article
Leber's congenital amaurosis with Duchenne's muscular dystrophy.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Jun 1990
Hazariwala K, Brownstein S, Polomeno R, Little J M, Labuda D
Abstract excerpt
We studied a family with Leber's congenital amaurosis and Duchenne's muscular dystrophy. One son, the proband, was noted to be blind from shortly after birth and had absent pupillary reflexes, attenuation of retinal blood vessels and pigmentary changes of the retina. He manifested Duchenne's muscular dystrophy at 6 years of age and died of its complication--severe respiratory failure--at 21 years of age. His...
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