Leber's congenital amaurosis with Duchenne's muscular dystrophy.

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...

Topics

Adolescent
Adult
Child
DNA
DNA Probes
Evaluation Studies as Topic
Female
Genetic Carrier Screening
Hereditary Sensory and Motor Neuropathy
Humans
Male

Muscular Dystrophies

Mutation

Optic Atrophies, Hereditary

Pedigree

Polymorphism, Restriction Fragment Length

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