Advanced search
Publication Cover
Ophthalmic Genetics Volume 23, 2002 - Issue 1
Submit an article Journal homepage
35
Views
14
CrossRef citations to date
0
Altmetric
Research Article

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

Serap Özden Departments of Ophthalmology,
,
Füsun Düzcan Departments of Medical Biology,
,
Bernd Wollnik Departments of Division of Medical Genetics, Institute of Child Health, Istanbul University, Istanbul, Turkey
,
G. Ozan Çetin Departments of Medical Biology,
,
Türker Sahiner Departments of Neurology,
,
Ismet Bayramoglu Departments of Otorhinolaringology, Medical Faculty, Pamukkale University, Denizli, and
,
Memnune Yüksel-Apak Departments of Division of Medical Genetics, Institute of Child Health, Istanbul University, Istanbul, Turkey
&
Hüseyin Bagci Departments of Medical Biology,
 show all
Pages 29-36 | Published online: 08 Jul 2009

References

  • Votruba M, Moore AT, Bhattacharya SS. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet. 1998;35: 793–800.
  • Fischel-Ghodsian N, Falk RE. Deafness. Arnould V.J, Hussel IEM. Optic atrophy and congenital blindness. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin's principles and practice of medical genetics. New York: Churchill Livingstone, 1997; 1149–1170, 2487–2502.
  • Konigsmark BW, Knox DL, Hussels IE, Moses H. Dominant congenital deafness and progressive optic atrophy. Arch Ophthalmol. 1974;91: 99–103.
  • Kollarits CR, Pinheiro ML, Swann ER, Marcus DE Corrie SW The autosomal dominant syndrome of progressive optic atrophy and congenital deafness. Am J Ophthalmol. 1979;8:789–792.
  • Mets MB, Mhoon E. Probable autosomal dominant optic atrophy with hearing loss. Ophthalmic Paediatr Genet. 1985;5(I–2):85–89.
  • Amemiya I, Honda A. A family with optic atrophy and congenital hearing loss. Ophthalmic Genet. 1994:15(2):87–93.
  • Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPAI) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994;3:977–980.
  • Kerrison JB, Arnould V.J, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999;117:805-81o.
  • Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. Nuclear gene OPAI, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26: 207–210.
  • Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. OPAI, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000;26: 211–215.
  • Kalatzis V, Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Review. Hum Mol Genet. 1998;7:1589–1597.
  • Vaughan DG, Asbury T, Riordan-Eva P. General ophthalmology. Lebanon: Librairie du Liban, 1992;82.
  • Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
  • Hagemoser K, Weinstein J, Bresnick Nellis R, Kirkpatrick S, Pauli RM. Optic atrophy, hearing loss, and peripheral neuropathy. Am J Med Genet. 1989;33:61–65.
  • Treft RL, Sanborn GE, Carey J, Swartz M, Crisp D, Wester DC, Creel D. Dominant optic atrophy, deafness, ptosis, opthalmoplegia, dystaxia, and myopathy: a new syndrome. Ophthalmology. 1984;91:908–915.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.