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Medical Journal of Islamic Republic of Iran، جلد ۲، شماره ۲، صفحات ۱۴۳-۱۴۷
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عنوان انگلیسی USHER'S SYNDROME REVISITED
چکیده انگلیسی مقاله Usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. The disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. It appears to be more common among Jewish individuals and consanguinous marriages. While it is rare in the general population (3 cases per 100,000 population), it is significantly prevalent among those who are deaf. Most patients are forced to give up their profession around age 30 or 40 or earlier, either because of advancing failure of sight leading to blindness at age 50 or 60, or due to the other disabilities of the condition. Although a wide variety of treatments have been tried including surgery, endocrine therapy, vitamins, and transplants, at present the disease cannot be cured nor its course significantly altered. A program for prevention through high risk diagnostic screening, coupled with genetic counseling, is both feasible and practical. In this report, we present two siblings with this syndrome, as well as a general review of the history and literature concerning this disorder.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله محسن جلیلیان | mohsen djalilian
from the department of ophthalmology and ent of iran air and ent department of mayoclinic rochester minnosota, u.s.a.


m s ژورژ w facer | m s george w facer


mh lashkarl | mh lashkarl


نشانی اینترنتی http://mjiri.iums.ac.ir/browse.php?a_code=A-10-1-514&slc_lang=en&sid=en
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Ophthalmology
نوع مقاله منتشر شده case report
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