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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 orcid (2018) In Neuro-Ophthalmology 42(2). p.73-82
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
; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Central diabetes insipidus, diabetes mellitus, hereditary optic neuropathies, neurosensory deafness, optic atrophy, Wolfram syndrome
in
Neuro-Ophthalmology
volume
42
issue
2
pages
73 - 82
publisher
Taylor & Francis
external identifiers
  • scopus:85027892410
  • pmid:29563951
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
2024-04-14 17:04:07
@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}},
  keywords     = {{Central diabetes insipidus; diabetes mellitus; hereditary optic neuropathies; neurosensory deafness; optic atrophy; Wolfram syndrome}},
  language     = {{eng}},
  month        = {{03}},
  number       = {{2}},
  pages        = {{73--82}},
  publisher    = {{Taylor & Francis}},
  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}},
  doi          = {{10.1080/01658107.2017.1344252}},
  volume       = {{42}},
  year         = {{2018}},
}