Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Autor: de Muijnck C; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Everdingen JAM; Department of Neuro-Ophthalmology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Lushchyk T; Department of Neuro-Ophthalmology, The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Heutinck PAT; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Verhoeven VJM; Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Wasmann RA; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Notting IC; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Walraedt S; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Van den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium., Leroy BP; Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Ghent University, Ghent, Belgium., Boon CJF; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., van Genderen MM; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands. mvgenderen@bartimeus.nl.; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands. mvgenderen@bartimeus.nl.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Oct 03; Vol. 14 (1), pp. 22956. Date of Electronic Publication: 2024 Oct 03.
DOI: 10.1038/s41598-024-74364-x
Abstrakt: This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. WFS1-associated diseases, or 'wolframinopathies', exhibit a spectrum of ocular and systemic phenotypes, of which the autosomal recessive Wolfram syndrome has been the most extensively studied. AD mutations in WFS1 also cause various phenotypical changes including OA. The most common phenotype in AD WFS1-associated disease, the combination of OA and hearing loss (HL), clinically resembles the 'plus' phenotype of DOA. We performed a comprehensive medical record review across tertiary referral centers in the Netherlands and Belgium resulting in 22 patients with heterozygous WFS1 variants. Eighteen (82%) had HL in addition to OA. Diabetes mellitus was found in 7 (32%). Four patients had isolated OA. One patient had an unusual phenotype with anterior chamber abnormalities and malformations of the extremities. Compared to DOA, AD WFS1-OA patients had different color vision abnormalities (red-green vs blue-yellow in DOA), abnormal OPL lamination on macular OCT (absent in DOA), more generalized thinning of the retinal nerve fiber layer, and more reduced and delayed pattern reversal visual evoked potentials.
(© 2024. The Author(s).)
Databáze: MEDLINE
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