ArticleThe British journal of ophthalmology2003
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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36 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Longitudinal Visual Biomarkers in Dominant Optic Atrophy: A Systematic Review and Meta-Analysis.Clinical & experimental ophthalmology · 2025Pooled it
- The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants.American journal of ophthalmology case reports · 2025Article
- IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy.Frontiers in ophthalmology · 2025Review
- Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.Eye (London, England) · 2023Article
- Incidence of non-glaucomatous ocular disease in patients with asymmetric optic disc cupping.International ophthalmology · 2021Article
- Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy.Investigative ophthalmology & visual science · 2020Article
- Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.Ophthalmic genetics · 2018Article
- Citicoline and Retinal Ganglion Cells: Effects on Morphology and Function.Current neuropharmacology · 2018Review
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.International journal of ophthalmology · 2018Review
- Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.PloS one · 2017Article
- Expansions of the neurovascular scleral canal and contained optic nerve occur early in the hypertonic saline rat experimental glaucoma model.Experimental eye research · 2016Article
- Optical coherence tomography shows early loss of the inferior temporal quadrant retinal nerve fiber layer in autosomal dominant optic atrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2015Article
- Medical management of hereditary optic neuropathies.Frontiers in neurology · 2014Review
- First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.Molecular vision · 2014Article
- Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.Molecular vision · 2013Article
- SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations.BioMed research international · 2013Article
- Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.BMC medical genetics · 2012Article
- Dominant optic atrophy.Orphanet journal of rare diseases · 2012Review
- A biomechanical paradigm for axonal insult within the optic nerve head in aging and glaucoma.Experimental eye research · 2011Review
- Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.Eye (London, England) · 2011Article
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3 authors at 1 institution in 2 countries.
Funding
Abstract
BACKGROUND/
aimsPatients with autosomal dominant optic atrophy (ADOA) are genetically heterogeneous, but all have disc pallor. A degree of cupping in ADOA can make the distinction from normal tension glaucoma (NTG) clinically difficult. This study aimed to clarify the features of the optic nerve of patients with ADOA at the OPA1 locus.
methods29 patients (58 eyes), from 12 families, were identified in a prospective observational study of patients with ADOA examined by a single observer between 1995 and 1998, in whom genetic analysis showed either evidence for linkage to chromosome 3q28 or mutations in the ADOA gene, OPA1. All of the patients had disc and fundal photographs available for retrospective analysis. Clinical data collected included disc appearance, intraocular pressure, Snellen visual acuity, Hardy-Rand-Rittler colour vision plates, and Humphrey 30-2 visual fields.
resultsMean age at time of examination was 37 years and mean visual acuity was 6/24. Disc morphology showed temporal disc pallor in 30 eyes (52%) and total disc pallor in 28 eyes (48%). At least one disc showed a cup to disc ratio of more than 0.5 in 18 patients (28 discs, 48%). The temporal neuroretinal rim always showed pallor and shallow shelving (or saucerisation) was seen in 46 eyes (79%). Only 12 discs (21%) had deep excavation and baring of blood vessels. All of the patients had normal intraocular pressure and no family history of glaucoma. There was a temporal grey, pigmentary crescent in 12 patients (18 eyes, 31%) and peripapillary atrophy in 20 patients (40 eyes, 69%), but disc margin haemorrhages were not seen. There was no maculopathy or retinopathy.
conclusionThe optic disc morphology, described for the first time in this genetically homogeneous population of patients with OPA1 ADOA, shows a distinctive absence of a healthy neuroretinal rim and shallow saucerisation of the optic disc cup, with frequent peripapillary atrophy.
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