Literature DB >> 11370575

Hereditary optic neuropathies.

J B Kerrison1.   

Abstract

Hereditary optic neuropathies comprise a group of disorders of the optic nerve that may be inherited in an autosomal recessive, autosomal dominant, X-linked, or maternal familial pattern. These disorders should be included in differential diagnosis of both congenital and acquired vision loss. They often present with a painless, slowly progressive, bilateral decreased vision. As in the case of LHON, a hereditary optic neuropathy may have an acute presentation. Clinical examination is characterized by bilateral decreased visual acuity, central scotomas on visual field testing, decreased color vision, and optic atrophy. Though a combination of family history, clinical presentation, age of onset, and associated findings may distinguish disorders, diagnosis may be facilitated by genetic testing.

Entities:  

Mesh:

Year:  2001        PMID: 11370575

Source DB:  PubMed          Journal:  Ophthalmol Clin North Am        ISSN: 0896-1549


  7 in total

1.  OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Authors:  Tetsuya Hamahata; Takuro Fujimaki; Keiko Fujiki; Ai Miyazaki; Atsushi Mizota; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2011-11-01       Impact factor: 2.447

2.  Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Authors:  Gitte J Almind; Karen Grønskov; Dan Milea; Michael Larsen; Karen Brøndum-Nielsen; Jakob Ek
Journal:  BMC Med Genet       Date:  2011-04-04       Impact factor: 2.103

3.  Visual recovery patterns in children with Leber's hereditary optic neuropathy.

Authors:  G Acaroğlu; T Kansu; C F Doğulu
Journal:  Int Ophthalmol       Date:  2001       Impact factor: 2.031

Review 4.  The optic nerve head in hereditary optic neuropathies.

Authors:  Evelyn C O'Neill; David A Mackey; Paul P Connell; Alex W Hewitt; Helen V Danesh-Meyer; Jonathan G Crowston
Journal:  Nat Rev Neurol       Date:  2009-05       Impact factor: 42.937

5.  Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

Authors:  Michela Ranieri; Roberto Del Bo; Andreina Bordoni; Dario Ronchi; Irene Colombo; Giulietta Riboldi; Alessandra Cosi; Maura Servida; Francesca Magri; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi; Stefania Corti
Journal:  J Neurol Sci       Date:  2011-12-22       Impact factor: 3.181

6.  A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Authors:  Mazhor Aldosary; Maysoon Alsagob; Hanan AlQudairy; Ana C González-Álvarez; Stefan T Arold; Mohammad Anas Dababo; Omar A Alharbi; Rawan Almass; AlBandary AlBakheet; Dalia AlSarar; Alya Qari; Mysoon M Al-Ansari; Monika Oláhová; Saif A Al-Shahrani; Moeenaldeen AlSayed; Dilek Colak; Robert W Taylor; Mohammed AlOwain; Namik Kaya
Journal:  Cells       Date:  2022-10-07       Impact factor: 7.666

7.  A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family.

Authors:  Shaoyi Mei; Xiaosheng Huang; Lin Cheng; Shiming Peng; Tianhui Zhu; Liang Chen; Yan Wang; Jun Zhao
Journal:  J Ophthalmol       Date:  2019-11-03       Impact factor: 1.909

  7 in total

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