ArticleJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2014
Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.
Article in Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 62 citations in OpenAlex.
- A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.JCI insight · 2021Trial
- Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.Scientific reports · 2016Trial
- Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome.IBRO neuroscience reports · 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
- Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome.Metabolites · 2026Article
- WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome.Acta neuropathologica communications · 2026Article
- Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.Orphanet journal of rare diseases · 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
- Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.Neuro-ophthalmology (Aeolus Press) · 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
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.Medicina (Kaunas, Lithuania) · 2024Review
- Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.Archives of endocrinology and metabolism · 2024Article
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.Psychiatry research · 2024Review
- Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.Brain sciences · 2023Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo describe an ophthalmic phenotype in children at relatively early stages of Wolfram syndrome.
methodsQuantitative ophthalmic testing of visual acuity, color vision, automated visual field sensitivity, optic nerve pallor and cupping, and retinal nerve fiber layer (RNFL) thickness assessed by optical coherence tomography (OCT) was performed in 18 subjects 5-25 years of age. Subjects were also examined for presence or absence of afferent pupillary defects, cataracts, nystagmus, and strabismus.
resultsSubnormal visual acuity was detected in 89% of subjects, color vision deficits in 94%, visual field defects in 100%, optic disk pallor in 94%, abnormally large optic nerve cup:disk ratio in 33%, thinned RNFL in 100%, afferent pupillary defects in 61%, cataracts in 22%, nystagmus in 39%, and strabismus in 39% of subjects. RNFL thinning (P < 0.001), afferent pupillary defects (P = 0.01), strabismus (P = 0.04), and nystagmus (P = 0.04) were associated with more severe disease using the Wolfram United Rating Scale.
conclusionsChildren and adolescents with Wolfram syndrome have multiple ophthalmic markers that correlate with overall disease severity. RNFL thickness measured by OCT may be the most reliable early marker.
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