ReviewBMC ophthalmology2014
Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.
Review in BMC ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 60 citations in OpenAlex.
- Mitochondrial DNA A3243G variant-associated MELAS: Recent advances in clinical trials, therapeutic interventions, and disease-modifying strategies.Intractable & rare diseases research · 2026Review
- Nutrient supplementation mitigates retinal dysfunction in Acox1 knockout mice with impaired peroxisomal fatty acid oxidation.Journal of advanced research · 2025Article
- Mitochondrial DNA A3243G variant: Current perspectives and clinical implications.Intractable & rare diseases research · 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
- Article
- Macular findings expedite accurate diagnosis of MIDD in a young female patient with newly diagnosed diabetes.American journal of ophthalmology case reports · 2022Article
- Proline metabolism and transport in retinal health and disease.Amino acids · 2021Review
- Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?Neuro-ophthalmology (Aeolus Press) · 2020Article
- 14th EUNOS Congress: PORTO, PORTUGAL, 16-19 JUNE 2019.Neuro-ophthalmology (Aeolus Press) · 2019Article
- Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients.JIMD reports · 2019Article
- The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness.Oman medical journal · 2018Article
- Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation.Scientific reports · 2017Article
- Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNAThe British journal of ophthalmology · 2017Article
- Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy.Ophthalmic geneticsArticle
- Neuro-ophthalmic manifestations of mitochondrial disorders and their management.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness). Both MELAS and MIDD patients can present with visual symptoms due to a retinopathy, sometimes before the genetic diagnosis is made. CASE PRESENTATION: Patient 1: 46 year-old woman with diabetes mellitus and hearing loss was referred for an unspecified maculopathy detected during screening evaluation for diabetic retinopathy. Visual acuity was 20/20 in both eyes. Fundus examination showed bilateral macular and peripapillary hyperpigmented/depigmented areas.Patient 2: 45 year-old woman was referred for recent vision loss in her left eye. History was remarkable for chronic fatigue, migraine and diffuse muscular pain. Visual acuity was 20/20 in her right eye and 20/30 in her left eye. Fundus exhibited several nummular perifoveal islands of retinal pigment epithelium atrophy and adjacent pale deposits in both eyes.Retinal anatomy was investigated with autofluorescence, retinal angiography and optical coherence tomography. Retinal function was assessed with automated static perimetry, full-field and multifocal electroretinography and electro-oculography. Genetic testing of mtDNA identified a point mutation at the locus 3243.
conclusionObservation of RPE abnormalities in the context of suggestive systemic findings should prompt mtDNA testing.
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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 OpenQuestion graph.