Medical Journal of the Islamic Republic Of Iran
مجله پزشکی جمهوری اسلامی ایران
Med J Islam Repub Iran
Medical Sciences
http://mjiri.iums.ac.ir
2
journal2
1016-1430
2251-6840
8
10.18869/mjiri
14
8888
13
en
jalali
1367
5
1
gregorian
1988
8
1
2
2
online
1
fulltext
en
USHER'S SYNDROME REVISITED
Ophthalmology
Ophthalmology
case report
case report
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.
143
147
http://mjiri.iums.ac.ir/browse.php?a_code=A-10-1-514&slc_lang=en&sid=1
MOHSEN
DJALILIAN
20031947532846005632
20031947532846005632
Yes
From the Department of Ophthalmology and ENT of Iran Air and ENT Department of MayoClinic Rochester Minnosota, U.S.A.
M.S. GEORGE
W.FACER
20031947532846005633
20031947532846005633
No
MH
LASHKARL
20031947532846005634
20031947532846005634
No