Leber's congenital amaurosis with Duchenne's muscular dystrophy.
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 older brother also was blind since birth, with absent pupillary light reflexes and an extinguished electroretinogram in both eyes. The proband's younger brother with Duchenne's muscular dystrophy died following respiratory failure. Their oldest brother was apparently unaffected. Their mother and sister were proven carriers of Duchenne's muscular dystrophy and a maternal uncle and great-uncle also died from this condition. The parents were consanguineous, third generation cousins.
Hazariwala
K
K
Department of Ophthalmology, McGill University, Montreal.
Brownstein
S
S
Polomeno
R
R
Little
J M
JM
Labuda
D
D
D000293:Adolescent; D000328:Adult; D002648:Child; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005069:Evaluation Studies as Topic; D005260:Female; D006580:Genetic Carrier Screening; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D015342:DNA Probes; D004247:DNA