Optic neuropathies in inherited metabolic disorders.
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.
Huizing
Marjan
M
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Brooks
Brian P
BP
Anikster
Yair
Y
D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D028361:Mitochondrial Diseases / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D009901:Optic Nerve Diseases / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D018901:Peroxisomal Disorders / Q000235:genetics / Q000503:physiopathology*
D004272:DNA, Mitochondrial