Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland.
Klin Monbl Augenheilkd. 2021 Apr;238(4):414-417. doi: 10.1055/a-1386-5826. Epub 2021 Apr 30.
The mitochondrial DNA (mtDNA) A3243G point mutation encompasses a heterogenous group of disorders including mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), and, rarely, chronic progressive external ophthalmoplegia (CPEO). Regardless of the clinical phenotype, a specific retinopathy has been associated with the presence of this mitochondrial DNA mutation. We present six female patients exhibiting retinopathy of the A3243G point mutation at various stages.
Six female patients (37 - 70 years old) with the A3243G point mutation (four MELAS, one MIDD, and one CPEO) exhibited a maculopathy. Visual acuity ranged from 1/60 to 10/10. Visual field abnormalities varied from minimal decreased sensitivity to absolute central scotomas. They all exhibited, at various degrees, a characteristic pattern of perimacular and peripapillary retinal pigment epithelium (RPE) alterations, with mottled dys-autofluorescence and RPE atrophy and deposits on OCT.
The level of visual impairment depended on the foveal involvement and the extension of RPE atrophy. The severity of the maculopathy was not related to age. In the only long-term follow-up (15 years), evolution was slowly progressive.
A single mtDNA point mutation at locus 3243 can result in a variety of clinical presentations (MELAS, MIDD, or CPEO). Ocular involvement may manifest as a perimacular/peripapillary RPE atrophy/deposit, which can variably impact central visual function (from asymptomatic to legal blindness). The discovery of such a maculopathy should prompt the ophthalmologist to complete the personal and family history, namely, asking for the presence of diabetes mellitus and/or deafness.
线粒体 DNA（mtDNA）A3243G 点突变包含一组异质性疾病，包括线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）、母系遗传性糖尿病和耳聋（MIDD），以及罕见的慢性进行性眼外肌麻痹（CPEO）。无论临床表现如何，这种线粒体 DNA 突变都与特定的视网膜病变有关。我们报告了六位表现出 A3243G 点突变相关视网膜病变的女性患者，其处于不同的阶段。
六位女性患者（37-70 岁）存在 A3243G 点突变（4 例 MELAS、1 例 MIDD 和 1 例 CPEO），表现为黄斑病变。视力从 1/60 到 10/10 不等。视野异常从最小敏感度下降到绝对中心暗点不等。她们都表现出不同程度的特征性黄斑和视盘周围视网膜色素上皮（RPE）改变，伴有斑驳的光自发荧光减弱和 RPE 萎缩及 OCT 上的沉积物。
视力损害程度取决于黄斑区受累程度和 RPE 萎缩程度。黄斑病变的严重程度与年龄无关。在唯一的长期随访（15 年）中，病情进展缓慢。
单一 mtDNA 点突变位于 3243 个位置可导致多种临床表现（MELAS、MIDD 或 CPEO）。眼部受累可能表现为黄斑周围/视盘周围 RPE 萎缩/沉积，这可能不同程度地影响中心视觉功能（从无症状到法定失明）。发现这种黄斑病变时，眼科医生应完善个人和家族史，即询问是否存在糖尿病和/或耳聋。
