Williams Zoë R, Hurley P Emmett, Altiparmak Ugur E, Feldon Steven E, Arnold Georgianne L, Eggenberger Eric, Mejico Luis J
Department of Ophthalmology, University of Rochester, Rochester, New York, USA.
Am J Ophthalmol. 2009 May;147(5):929-33. doi: 10.1016/j.ajo.2008.12.024. Epub 2009 Feb 25.
To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia.
Retrospective case series.
A total of 3 subjects, a 16-year-old male with methylmalonic acidemia (MMA), a 21-year-old male with MMA, and a 20-year-old female with propionic acidemia (PA), are included in this series. Comparison of the patients' clinical course, ophthalmologic exam, and testing are discussed. The outcome measures include visual acuity (VA), fundus appearance, visual fields, brain imaging, and genetic testing.
All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic workups for other causes of bilateral optic neuropathy.
Patients with organic acidemia may develop late-onset bilateral optic neuropathy with visual dysfunction despite lifelong propiogenic amino acid restriction and dietary supplementation.
描述3例有机酸血症患者出现迟发性双侧视神经病变并伴有视觉功能障碍的病例。
回顾性病例系列研究。
本系列研究共纳入3名受试者，分别为1名患有甲基丙二酸血症（MMA）的16岁男性、1名患有MMA的21岁男性以及1名患有丙酸血症（PA）的20岁女性。讨论了患者的临床病程、眼科检查及检测结果。观察指标包括视力（VA）、眼底表现、视野、脑部影像学检查及基因检测。
所有3名受试者均出现迟发性严重双侧视力丧失，伴有双侧视神经苍白，视野检查显示中心或中心暗点，且针对双侧视神经病变的其他病因的诊断检查结果均为阴性。
尽管终生限制生糖氨基酸摄入并进行饮食补充，但有机酸血症患者仍可能发生迟发性双侧视神经病变并伴有视觉功能障碍。
