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Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON

Galvez-Ruiz, Alberto; Galindo-Ferreiro, Alicia and Schatz, Patrik LU (2017) In Neuro-Ophthalmology p.1-10
Abstract

In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

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author
organization
publishing date
type
Contribution to journal
publication status
in press
subject
keywords
Central diabetes insipidus, diabetes mellitus, hereditary optic neuropathies, neurosensory deafness, optic atrophy, Wolfram syndrome
in
Neuro-Ophthalmology
pages
10 pages
external identifiers
  • scopus:85027892410
ISSN
0165-8107
DOI
10.1080/01658107.2017.1344252
language
English
LU publication?
yes
id
484665fd-1138-4b01-a4c0-d6390c6050e1
date added to LUP
2017-09-04 11:36:24
date last changed
2017-09-04 11:36:24
@article{484665fd-1138-4b01-a4c0-d6390c6050e1,
  abstract     = {<p>In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.</p>},
  author       = {Galvez-Ruiz, Alberto and Galindo-Ferreiro, Alicia and Schatz, Patrik},
  issn         = {0165-8107},
  keyword      = {Central diabetes insipidus,diabetes mellitus,hereditary optic neuropathies,neurosensory deafness,optic atrophy,Wolfram syndrome},
  language     = {eng},
  month        = {08},
  pages        = {1--10},
  series       = {Neuro-Ophthalmology},
  title        = {Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON},
  url          = {http://dx.doi.org/10.1080/01658107.2017.1344252},
  year         = {2017},
}