Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.
Publication year
2024Source
American journal of ophthalmology case reports, 34, (2024), pp. 102070, article 102070ISSN
Annotation
01 juni 2024
Publication type
Article / Letter to editor
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Organization
Human Genetics
Paediatrics
Journal title
American journal of ophthalmology case reports
Volume
vol. 34
Page start
p. 102070
Subject
Human Genetics - Radboud University Medical Center; Paediatrics - Radboud University Medical CenterAbstract
PURPOSE: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. OBSERVATIONS: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in MT-ATP6, m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy. CONCLUSIONS AND IMPORTANCE: Rare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber's hereditary optic neuropathy to confirm the clinical diagnosis.
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- Academic publications [245263]
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- Faculty of Medical Sciences [93208]
- Open Access publications [106157]
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