Huizing Marjan, Brooks Brian P, Anikster Yair
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Pediatr Endocrinol Rev. 2005 Dec;3(2):97-103.
Optic neuropathy is a common cause of childhood visual defects and early diagnosis is important for counseling, management and treatment of the underlying conditions. In most cases, careful examination, family history and neuroimaging are sufficient to identify the underlying cause. However, in unexplained cases, in cases where more than one individual in a family is affected and in cases where optic neuropathy is accompanied by other systemic signs and symptoms, a metabolic disorder should be considered. Metabolic disorders generally show a broad range of multisystem clinical symptoms, including eye defects. Here we review the substantial group of metabolic disorders that include optic neuropathies which may aid ophthalmologist, geneticist, neurologist, endocrinologist and other involved specialists in the diagnosis process.
视神经病变是儿童视力缺陷的常见原因，早期诊断对于潜在疾病的咨询、管理和治疗至关重要。在大多数情况下，仔细检查、家族史和神经影像学检查足以确定潜在病因。然而，在无法解释的病例、家族中有不止一人患病的病例以及视神经病变伴有其他全身体征和症状的病例中，应考虑代谢紊乱。代谢紊乱通常表现出广泛的多系统临床症状，包括眼部缺陷。在此，我们回顾了包括视神经病变在内的大量代谢紊乱疾病，这可能有助于眼科医生、遗传学家、神经科医生、内分泌科医生和其他相关专科医生进行诊断。
