Ianchulev Tsontcho, Kolin Talia, Moseley Kathryn, Sadun Alfredo
Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
Ophthalmology. 2003 Sep;110(9):1850-4. doi: 10.1016/S0161-6420(03)00573-6.
Propionic acidemia is a rare metabolic disorder that is diagnosed in the early neonatal period. The disorder is characterized by life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Herein we report the ocular findings in a prospective series of six patients with propionic acidemia.
Prospective case series.
Six children (three male and three female) between the ages of 2 and 10 years with propionic acidemia who were examined at Children's Hospital Los Angeles.
A complete ophthalmic examination was performed on each of the six children. The examination included visual acuity testing, ocular motility, anterior segment examination, and funduscopic evaluation. Emphasis was placed on the function of the optic nerve and on the appearance of the optic disc, looking for possible atrophic changes.
The clinical appearance of the optic disc and evidence of optic neuropathy.
Optic nerve atrophy was present exclusively in all of the male patients in the series; none of the female patients demonstrated any detectable impairment of optic nerve function. The optic nerve atrophy was symmetric and age dependent and varied from moderate to severe. There were no other anterior or posterior segment abnormalities, other than one case of unilateral morning glory syndrome, diagnosed at birth. There was no correlation between metabolic control and the development and progression of optic nerve atrophy.
Males with propionic acidemia have moderate to severe bilateral optic atrophy.
丙酸血症是一种罕见的代谢紊乱疾病，在新生儿早期被诊断出来。该疾病的特征是危及生命的酮症酸中毒、嗜睡、生长发育迟缓以及发育延迟。在此，我们报告一组六例丙酸血症患者的眼部检查结果。
前瞻性病例系列。
六名年龄在2至10岁之间的患有丙酸血症的儿童（三男三女），他们在洛杉矶儿童医院接受了检查。
对这六名儿童均进行了全面的眼科检查。检查包括视力测试、眼球运动、眼前节检查和眼底评估。重点关注视神经功能以及视盘外观，寻找可能的萎缩性改变。
视盘的临床表现及视神经病变的证据。
该系列中所有男性患者均出现视神经萎缩；女性患者均未表现出任何可检测到的视神经功能损害。视神经萎缩是对称的且与年龄相关，程度从中度到重度不等。除了一例出生时被诊断为单侧牵牛花综合征外，没有其他眼前节或眼后节异常。代谢控制与视神经萎缩的发生和进展之间没有相关性。
患有丙酸血症的男性有中度至重度双侧视神经萎缩。
