ArticleEye (London, England)2011
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
Article in Eye (London, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 74 citations in OpenAlex.
- Rhesus macaques with anProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class.Investigative ophthalmology & visual science · 2026Article
- Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients.Neuroimage. Reports · 2026Article
- Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.Scientific reports · 2024Article
- Utility of ganglion cells for the evaluation of anterior visual pathway pathology: a review.Acta neurologica Belgica · 2024Review
- Maculopapillary Bundle Degeneration in Optic Neuropathies.Current neurology and neuroscience reports · 2024Review
- Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy.Journal of clinical medicine · 2024Article
- Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.Eye (London, England) · 2023Article
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- Enrichment of retinal ganglion and Müller glia progenitors from retinal organoids derived from human induced pluripotent stem cells - possibilities and current limitations.World journal of stem cells · 2020Article
- Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.BMC pediatrics · 2020Article
- Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.Investigative ophthalmology & visual science · 2020Article
- Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.European journal of human genetics : EJHG · 2019Article
- Characterization of Charcot-Marie-Tooth optic neuropathy.Journal of neurology · 2017Article
- The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.Investigative ophthalmology & visual science · 2017Article
- Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according toMolecular vision · 2017Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe majority of patients with autosomal dominant optic atrophy (DOA) harbour pathogenic OPA1 mutations. Although DOA is characterised by the preferential loss of retinal ganglion cells (RGCs), about 20% of patients with OPA1 mutations will develop a more severe disease variant (DOA+), with additional neuromuscular features. In this prospective, observational case series, optical coherence tomography (OCT) was used to define the pattern of retinal nerve fibre layer (RNFL) loss in patients with both the pure and syndromal forms of DOA.
methodsForty patients with a molecular diagnosis of DOA due to OPA1 mutations were prospectively recruited from our neuro-ophthalmology clinic: 26 patients with isolated optic atrophy and 14 patients manifesting DOA+ features. Peripapillary RNFL thickness was measured with the Fast RNFL (3.4) acquisition protocol on a Stratus OCT.
resultsThere was a statistically significant reduction in average RNFL thickness in the OPA1 group compared with normal controls (P<0.0001). The percentage decrease was greatest in the temporal quadrant (59.0%), followed by the inferior (49.6%), superior (41.8%), and nasal (25.9%) quadrants. Patients with DOA+ features had worse visual outcomes compared with patients with pure DOA. Except in the temporal quadrant, RNFL measurements were significantly thinner for the DOA+ group. There was an inverse correlation between average RNFL thickness and logarithm of the minimum angle of resolution (LogMAR) visual acuity (P<0.0001).
conclusionsRGC loss in DOA is characterised by severe involvement of the temporal papillomacular bundle, with relative sparing of the nasal fibres. RNFL thinning is more pronounced in patients with DOA+ phenotypes.
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