Hereditary optic neuropathies

作者：Neuhann T M^*; Rautenstrauss B

来源：Medizinische Genetik, 2014, 26(1): 11-20.

DOI：10.1007/s11825-014-0435-y

• Optic atrophy, hereditary, Leber
• Wolfram syndrome
• MERRF syndrome
• Neuroferritinopathy
• Mitochondrial disease

Hereditary optic neuropathies comprise a group of clinically and genetically heterogeneous disorders, which can be divided into 2 subgroups: isolated hereditary optic atrophies and optic neuropathies as part of complex disorders. In the first group of isolated hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. This group comprises autosomal dominant, autosomal recessive and X-linked recessive optic atrophy, and the mitochondrial inherited Leber's hereditary optic neuropathy (LHON). In the second group of complex disorders, various neurologic and other systemic abnormalities are regularly observed. The most frequent cause in this group are mitochondrial DNA (mtDNA) mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich ataxia, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses, and neurodegeneration with brain iron accumulation (NBIA). In the present article, the clinical phenotypes and underlying genetic predispositions are described.

• 出版日期2014-3