ArticleBMJ open ophthalmology2018
Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression.
Article in BMJ open ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 24 citations in OpenAlex.
- Exploratory Associations Between Multimodal MRI-Derived Features and Neurological Symptoms in Wolfram Syndrome: A Spanish Cohort Pilot Study.Diagnostics (Basel, Switzerland) · 2026Article
- Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.medRxiv : the preprint server for health sciences · 2026Article
- Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms andmedRxiv : the preprint server for health sciences · 2026Article
- Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients.medRxiv : the preprint server for health sciences · 2026Article
- Synaptic Alterations Are Preceding the Axonal Loss in Optic Atrophy of Wolfram Syndrome Mouse Model.bioRxiv : the preprint server for biology · 2026Article
- Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model.Frontiers in neuroscience · 2026Article
- Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms andFrontiers in genetics · 2026Article
- Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients.Frontiers in endocrinology · 2026Article
- Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome.Frontiers in neuroscience · 2026Review
- Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.Scientific reports · 2024Article
- Treatment with the dual-incretin agonist DA-CH5 demonstrates potent therapeutic effect in a rat model of Wolfram Syndrome.Frontiers in endocrinology · 2023Article
- Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.American journal of ophthalmology · 2022Article
- Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.Pediatric diabetes · 2022Observational
- Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome.Frontiers in neuroscience · 2022Article
- A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.BMC endocrine disorders · 2021Article
- Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome.AJNR. American journal of neuroradiology · 2020Article
- Analysis of retinal nerve fiber layer thickness in anisometropic amblyopia via optic coherence tomography.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Sleep disturbances in Wolfram syndrome.Orphanet journal of rare diseases · 2019Article
- Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.Journal of translational medicine · 2019Review
- Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND/
aimsTo report alterations in visual acuity and visual pathway structure over an interval of 1-3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident in patients with WFS whose ages differed by as much as 20 years at first examination.
methodsAnnual, prospective ophthalmological examinations were performed in conjunction with retinal nerve fibre layer (RNFL) analysis. Diffusion tensor MRI-derived fractional anisotropy was used to assess the microstructural integrity of the optic radiations (OR FA).
resultsMean age of the 23 patients with WFS in the study was 13.8 years (range 5-25 years). Mean log minimum angle resolution visual acuity was 0.66 (20/91). RNFL thickness was subnormal in even the youngest patients with WFS. Average RNFL thickness in patients with WFS was 57±8 µ or ~40% thinner than that measured in normal (94±10 µ) children and adolescents (P<0.01). Lower OR FA correlated with worse visual acuity (P=0.006). Subsequent examinations showed declines (P<0.05) in visual acuity, RNFL thickness and OR FA at follow-up intervals of 12-36 months. However, a wide range of disease severity was evident across ages: some of the youngest patients at their first examination had deficits more severe than the oldest patients.
conclusionThe genetic mutation of WFS causes damage to both pregeniculate and postgeniculate regions of the visual pathway. The damage is progressive. The decline in visual pathway structure is accompanied by declines of visual function. Disease severity differs widely in individual patients and cannot be predicted from their age.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.