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
(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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https://lup.lub.lu.se/record/484665fd-1138-4b01-a4c0-d6390c6050e1
- author
- Galvez-Ruiz, Alberto ; Galindo-Ferreiro, Alicia and Schatz, Patrik LU
- organization
- publishing date
- 2018-03-04
- 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
-
- pmid:29563951
- 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
- 2024-09-02 06:33:43
@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}}, }