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一名年轻男性的急性双侧视力丧失:一例Leber遗传性视神经病变

Acute Bilateral Vision Loss in a Young Male: A Case of Leber's Hereditary Optic Neuropathy.

作者信息

Hilali Zineb, El Korno Oumaima, Laarif Younes, Boutimzine Noureddine, Cherkaoui Lalla Ouafae

机构信息

Faculty of Medicine, L'Hôpital des Spécialités de Rabat, Rabat, MAR.

Ophthalmology, Ibn Sina Hospital, Rabat, MAR.

出版信息

Cureus. 2025 Jun 23;17(6):e86607. doi: 10.7759/cureus.86607. eCollection 2025 Jun.

Abstract

Leber's Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder that primarily affects young adult males, leading to acute or subacute painless central vision loss. The condition results from point mutations in mitochondrial DNA, most commonly affecting the , , or genes, which impair the function of complex I in the mitochondrial respiratory chain. This leads to selective degeneration of retinal ganglion cells and the optic nerve, causing severe and often irreversible visual impairment. We present the case of a 24-year-old male farmer who consulted for rapidly progressive bilateral visual acuity loss. Visual acuity was measured at 1/10 in the right eye and "counting fingers at near" in the left eye, with a left relative afferent pupillary defect (RAPD). An extensive etiological workup for optic neuropathy was conducted. Genetic testing of the gene identified the 11778/ND4 mutation, confirming the diagnosis of LHON.

摘要

Leber遗传性视神经病变(LHON)是一种罕见的线粒体基因疾病,主要影响年轻成年男性,导致急性或亚急性无痛性中心视力丧失。该病由线粒体DNA中的点突变引起,最常见的是影响、或基因,这些基因会损害线粒体呼吸链中复合体I的功能。这会导致视网膜神经节细胞和视神经的选择性退化,造成严重且往往不可逆转的视力损害。我们报告了一名24岁男性农民的病例,他因快速进展的双侧视力丧失前来咨询。右眼视力测量为1/10,左眼为“近视力数指”,伴有左侧相对性传入性瞳孔障碍(RAPD)。针对视神经病变进行了广泛的病因检查。对基因进行的基因检测发现了11778/ND4突变,确诊为LHON。

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