期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 138A, 期 3, 页码 208-211出版社
WILEY
DOI: 10.1002/ajmg.a.30794
关键词
optic atrophy; deafness; mitochondria; OPA1; dynamin
资金
- NCRR NIH HHS [K23 RR16427] Funding Source: Medline
- NEI NIH HHS [R01 EY14438, R01 EY14448] Funding Source: Medline
Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPAL We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPAL The R445H mutation is the only OPA1 mutation that has been associated with this syndrome. In this manuscript, we clinically characterize an unrelated family with four members affected by optic atrophy and hearing loss without extraocular motility abnormalities or ptosis. This family also harbors the R445H mutation. These cases help illustrate the intra- and inter-family variability in phenotype associated with this mutation. As we continue to learn more about OPA1 and the function of its protein product, we will begin to understand the pathophysiology of optic atrophy. This understanding will ultimately lead to novel treatments directed toward preventing the visual loss and disability associated with this inherited disease. (c) 2005 Wiley-Liss, Inc.
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