Ricci D, Pane M, Deodato F, Vasco G, Randò T, Caviglia S, Dionisi-Vici C, Mercuri E
Child Neurology and Psychiatry Unit, Catholic University, Rome, Italy.
Neuropediatrics. 2005 Jun;36(3):181-5. doi: 10.1055/s-2005-865609.
The aim of this study was to assess various aspects of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria. All patients had an ophthalmological examination and were tested with a battery of age-appropriate tests assessing various aspects of visual function such as acuity, visual fields and visual attention. None of the patients had significant retinal abnormalities but all 6 had nystagmus which was associated with strabismus in 3 of the 6. They all had some abnormalities on the behavioral tests assessing visual function which appeared to be related to the age of the patients. Visual impairment was more severe in the 3 patients below 3 years of age and milder in the older patients. The presence and the severity of abnormalities, in contrast, did not depend on the age at onset or the age when treatment was started and were only partly related to brain MRI findings. Severe hydrocephalus and basal ganglia involvement were associated with severe visual impairment, but abnormal visual findings were also present in the children with normal MRI and isolated mild periventricular changes. Our results suggest that age, brain lesions and other factors may be responsible for visual abnormalities in methylmalonic aciduria and homocystinuria. Further studies using early and sequential assessment of visual function are needed to establish whether the differences observed between younger and older children may be related to the duration of therapy.
本研究旨在评估6例甲基丙二酸尿症和同型胱氨酸尿症患者（年龄范围：9个月至7岁8个月）的视觉功能的各个方面。所有患者均接受了眼科检查，并通过一系列适合其年龄的测试进行检测，这些测试评估了视觉功能的各个方面，如视力、视野和视觉注意力。所有患者均无明显视网膜异常，但6例患者均有眼球震颤，其中3例伴有斜视。他们在评估视觉功能的行为测试中均有一些异常，这些异常似乎与患者年龄有关。3岁以下的3例患者视觉障碍更严重，年龄较大的患者则较轻。相比之下，异常的存在和严重程度并不取决于发病年龄或开始治疗的年龄，仅部分与脑部磁共振成像（MRI）结果相关。严重脑积水和基底神经节受累与严重视觉障碍相关，但MRI正常且仅有轻度脑室周围改变的儿童也有异常视觉表现。我们的结果表明，年龄、脑部病变和其他因素可能是甲基丙二酸尿症和同型胱氨酸尿症患者视觉异常的原因。需要进一步研究对视觉功能进行早期和连续评估，以确定年幼儿童和年长儿童之间观察到的差异是否与治疗持续时间有关。
