Literature DB >> 4058877

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).

F Meire, J J De Laey, S de Bie, M van Staey, M T Matton.   

Abstract

This paper describes a family where chronic progressive external ophthalmoplegia is associated with dominant optic atrophy and progressive sensorineural deafness. This may be a possible association in the same family of two diseases: progressive external ophthalmoplegia and dominant optic atrophy with progressive hearing loss. However, we believe that this family represents an unusual manifestation of ophthalmoplegia plus.

Entities:  

Mesh：

Year:  1985        PMID： 4058877     DOI： 10.3109/13816818509007861

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  9 in total

Review 1.  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

2.  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

3.  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

Review 4.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

5.  Multi-system neurological disease is common in patients with OPA1 mutations.

Authors:  P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal:  Brain       Date:  2010-02-15       Impact factor: 13.501

Review 6.  Progressive External Ophthalmoplegia.

Authors:  Collin McClelland; Georgios Manousakis; Michael S Lee
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

7.  OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Authors:  Rosamaria Santarelli; Roberta Rossi; Pietro Scimemi; Elona Cama; Maria Lucia Valentino; Chiara La Morgia; Leonardo Caporali; Rocco Liguori; Vincenzo Magnavita; Anna Monteleone; Ariella Biscaro; Edoardo Arslan; Valerio Carelli
Journal:  Brain       Date:  2015-01-05       Impact factor: 13.501

8.  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

9.  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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.