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常染色体显性视神经萎缩(ADOA),即Kjer型,是最常见的遗传性视神经病变。主要临床表现为中度到重度不等的视力下降、双眼颞侧视神经萎缩、中心暗点或旁中心暗点以及色觉障碍。组织病理学显示该病变主要为视网膜神经节细胞变性。迄今为止,致病基因OPA1(3q28-29)已明确,大约90%的ADOA与该基因的突变有关。此外,18q12.2-12.3(OPA4)、22q12.1-q13.1(OPA5)以及19q13.2-q13.3(OPA3)与ADOA的发病也有关,但其中的致病基因尚未明确。
Autosomal dominant optic atrophy (ADOA), the Kjer type, is the most common hereditary optic neuropathy. The main clinical manifestations ranging from moderate to severe vision loss, binocular temporal optic nerve atrophy, dark center or next to the center of dark spots and color vision disorders. Histopathology showed that the lesion was mainly degeneration of retinal ganglion cells. To date, the causative gene OPA1 (3q28-29) has made it clear that about 90% of ADOA is involved in the mutation of this gene. In addition, 18q12.2-12.3 (OPA4), 22q12.1-q13.1 (OPA5) and 19q13.2-q13.3 (OPA3) are also involved in the pathogenesis of ADOA.