Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: A new Usher syndrome subtype with X-linked inheritance?
✍ Scribed by Mahdi Malekpour; Arash Shahidi; Mohammad Taghi Khorsandi Ashtiani; Masoud Motasaddi Zarandy
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 303 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
Abstract
Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late‐onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. © 2007 Wiley‐Liss, Inc.