Retinal cases & brief reports · 2025
LONG-TERM FOLLOW-UP OF A FAMILY WITH A3243G MITOCHONDRIAL SYNDROME.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Feo Alessandro, Fossataro Claudia, Abraham Néda, Voichanski Shilo, Lemon Jack D, Sarraf David
Аннотация
PURPOSE: The objective of the study was to describe the clinical and multimodal imaging features of a family (proband, sister, and mother) with A3243G mitochondrial retinopathy and long-term follow-up.
METHODS: Medical and imaging records were retrospectively evaluated. Multimodal imaging included ultra-wide-field color fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. Long-term multimodal imaging follow-up ranged from 6 to 15 years and was available for each member.
RESULTS: The proband (Case 1) exhibited rapidly progressive bilateral macular atrophy, corneal endothelial polymegathism, and an A3243G mutation in the mitochondrial DNA. The proband also endorsed a history of early-onset myocardial infarction 10 years ago at the age of 42 years. The proband's sister (Case 2) only exhibited unilateral focal macular atrophy but admitted to a history of severe multiorgan systemic disease, including multiple sclerosis and major depression disorder. The proband's mother (Case 3), the only one with diabetes mellitus and hearing loss, originally presented with branch retinal vein occlusion in the right eye and pattern dystrophy in the left eye, which evolved to geographic atrophy, right eye > left eye, 15 years later.
CONCLUSION: A3243G mitochondrial syndrome can exhibit heterogeneous ocular and systemic features, even within members of the same family. The development of the characteristic maculopathy with early-onset myocardial infarction warrants genetic testing. Early cardiac and systemic screening may be recommended for individuals with characteristic retinal findings and genetic confirmation.
METHODS: Medical and imaging records were retrospectively evaluated. Multimodal imaging included ultra-wide-field color fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. Long-term multimodal imaging follow-up ranged from 6 to 15 years and was available for each member.
RESULTS: The proband (Case 1) exhibited rapidly progressive bilateral macular atrophy, corneal endothelial polymegathism, and an A3243G mutation in the mitochondrial DNA. The proband also endorsed a history of early-onset myocardial infarction 10 years ago at the age of 42 years. The proband's sister (Case 2) only exhibited unilateral focal macular atrophy but admitted to a history of severe multiorgan systemic disease, including multiple sclerosis and major depression disorder. The proband's mother (Case 3), the only one with diabetes mellitus and hearing loss, originally presented with branch retinal vein occlusion in the right eye and pattern dystrophy in the left eye, which evolved to geographic atrophy, right eye > left eye, 15 years later.
CONCLUSION: A3243G mitochondrial syndrome can exhibit heterogeneous ocular and systemic features, even within members of the same family. The development of the characteristic maculopathy with early-onset myocardial infarction warrants genetic testing. Early cardiac and systemic screening may be recommended for individuals with characteristic retinal findings and genetic confirmation.