Sue C M, Mitchell P, Crimmins D S, Moshegov C, Byrne E, Morris J G
Department of Neurology, University of Sydney, Westmead Hospital, Australia.
Neurology. 1997 Oct;49(4):1013-7. doi: 10.1212/wnl.49.4.1013.
Fourteen patients from four unrelated families were studied to determine the prevalence of retinal pigmentary abnormalities associated with the MELAS A to G 3243 point mutation. Neurologic and ophthalmic examinations, retinal photography, pattern shift visual evoked potentials, and electroretinography were performed in all patients. Eight of the 14 patients had retinal pigmentary abnormalities characterized by symmetric areas of depigmentation involving predominantly the posterior pole and midperipheral retina. None of the patients had optic atrophy and only one patient with pigmentary retinal abnormalities had impaired visual acuity. None of the diabetic subjects (n = 6) had signs of diabetic retinopathy. Fluorescein angiography demonstrated mottled hyper- and hypofluorescent areas indicating multiple window defects in the retinal pigmentary epithelium. Visual evoked potentials showed delayed P100 responses in four of the eight patients with retinal pigmentary abnormalities. We conclude that there is a high prevalence of retinal pigmentary abnormalities in patients with MELAS A to G 3243 point mutation. These abnormalities are usually asymptomatic and best detected by retinal photography.
对来自四个无亲缘关系家庭的14名患者进行了研究，以确定与MELAS A至G 3243点突变相关的视网膜色素异常的患病率。对所有患者进行了神经和眼科检查、视网膜照相、图形视觉诱发电位和视网膜电图检查。14名患者中有8名存在视网膜色素异常，其特征为色素脱失对称区域，主要累及后极部和视网膜中周部。所有患者均无视神经萎缩，仅有1例视网膜色素异常患者视力受损。糖尿病患者（n = 6）均无糖尿病视网膜病变体征。荧光素血管造影显示斑驳的高荧光和低荧光区域，提示视网膜色素上皮存在多个窗样缺损。视网膜色素异常的8名患者中有4名视觉诱发电位显示P100反应延迟。我们得出结论，MELAS A至G 3243点突变患者中视网膜色素异常的患病率很高。这些异常通常无症状，通过视网膜照相最易检测到。
