ArticleThe British journal of ophthalmology2008
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.
Article in The British journal of ophthalmology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 61 citations in OpenAlex.
- Nutrient supplementation mitigates retinal dysfunction in Acox1 knockout mice with impaired peroxisomal fatty acid oxidation.Journal of advanced research · 2025Article
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- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.International journal of ophthalmology · 2025Review
- Mitochondrial control of hypoxia-induced pathological retinal angiogenesis.Angiogenesis · 2024Article
- Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Mitochondria and the eye-manifestations of mitochondrial diseases and their management.Eye (London, England) · 2023Review
- Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.GMS ophthalmology cases · 2023Article
- Article
- Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?Neuro-ophthalmology (Aeolus Press) · 2020Article
- Commentary: Heteroplasmy in maternally inherited diabetes and deafness.Indian journal of ophthalmology · 2020Article
- Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.Indian journal of ophthalmology · 2020Article
- Cultured primary human fetal retinal pigment epithelium (hfRPE) as a model for evaluating RPE metabolism.Experimental eye research · 2014Review
- Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.BMC ophthalmology · 2014Review
- Mitochondrial DNA abnormalities in ophthalmological disease.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2011Article
- Mitochondrial disorders and the eye.Eye and brain · 2011Review
- mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice.The Journal of clinical investigation · 2011Article
- [Retinal pigment epithelium atrophy and hypacousia in monozygotic twin sisters].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2010Article
- The neuro-ophthalmology of mitochondrial disease.Survey of ophthalmologyReview
- Neuro-ophthalmic manifestations of mitochondrial disorders and their management.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe mitochondrial DNA A3243G point mutation is associated with a wide variety of systemic manifestations including a macular dystrophy. The characteristics of fundus autofluorescence (AF) in these patients are distinctive and have not been previously described.
methodsA complete history and ophthalmic examination, including fundus photography and autofluorescence imaging, was performed on twelve probands harbouring the A3243G point mutation.
resultsFour patients had diabetes, 10/12 hearing loss, and 7/12 were visually symptomatic. A positive family history was present in 5/12. Fundus findings consisted of two primary phenotypes: discontinuous circumferentially oriented perifoveal atrophy (9/12) or an appearance consistent with pattern dystrophy (3/12). In both phenotypes pale deposits and pigment clumping were seen at the level of the retinal pigment epithelium, with occasional changes also noted outside the arcades and nasal to the optic nerve. Fundus AF imaging revealed decreased autofluorescence in areas of atrophy and increased AF of the pale subretinal deposits. In areas of the retina that appeared normal clinically, variable sized flecks of increased and decreased AF were present.
conclusionsThe mitochondrial DNA A3243G point mutation can result in disease with a variable presentation. Fundus autofluorescence reveals a recognisable phenotype in most cases that is different from other macular dystrophies.
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