Alström syndrome: progressive deafness and blindness.
Alström syndrome is a very rare, genetically transmitted disorder that affects special sense functions, resulting in progressive visual and auditory impairment. The diagnostic criteria for this disorder are presented, and the differential issues between it and other, similar syndromal forms of sensory and multisystem dysfunction are discussed. A report of 2 siblings so involved is summarized. The disability of other organs is considered, namely, the kidney, the heart, and the metabolic and endocrine systems.
Welsh
Louis W
LW
D000293:Adolescent; D001299:Audiometry; D001766:Blindness / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003638:Deafness / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D035781:Siblings; D013577:Syndrome