Literature DB >> 6493699

Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.

R L Treft, G E Sanborn, J Carey, M Swartz, D Crisp, D C Wester, D Creel.   

Abstract

Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.

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Year:  1984        PMID： 6493699     DOI： 10.1016/s0161-6420(84)34214-2

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


  8 in total

1.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

Review 2.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Authors:  M Votruba; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

3.  A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Authors:  J J Assink; N T Tijmes; J B ten Brink; R J Oostra; F C Riemslag; P T de Jong; A A Bergen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

4.  Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Authors:  H Eiberg; L Hansen; B Kjer; T Hansen; O Pedersen; M Bille; T Rosenberg; L Tranebjaerg
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

5.  Mitochondrial retention of Opa1 is required for mouse embryogenesis.

Authors:  Billie A Moore; Gladys D Gonzalez Aviles; Christine E Larkins; Michael J Hillman; Tamara Caspary
Journal:  Mamm Genome       Date:  2010-07-21       Impact factor: 2.957

6.  OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.

Authors:  Stefanie Bette; Ulrike Zimmermann; Bernd Wissinger; Marlies Knipper
Journal:  Histochem Cell Biol       Date:  2007-09-08       Impact factor: 4.304

7.  Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Authors:  Akiko Maeda-Katahira; Natsuko Nakamura; Takaaki Hayashi; Satoshi Katagiri; Satoko Shimizu; Hisao Ohde; Tatsuo Matsunaga; Kimitaka Kaga; Tadashi Nakano; Shuhei Kameya; Tomokazu Matsuura; Kaoru Fujinami; Takeshi Iwata; Kazushige Tsunoda
Journal:  Mol Vis       Date:  2019-10-05       Impact factor: 2.367

8.  OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Authors:  Bastien Le Roux; Guy Lenaers; Xavier Zanlonghi; Patrizia Amati-Bonneau; Floris Chabrun; Thomas Foulonneau; Angélique Caignard; Stéphanie Leruez; Philippe Gohier; Vincent Procaccio; Dan Milea; Johan T den Dunnen; Pascal Reynier; Marc Ferré
Journal:  Orphanet J Rare Dis       Date:  2019-09-10       Impact factor: 4.123
  8 in total

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