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Research progress of hereditary optic neuropathy associated with OPA gene mutations

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Author:
No author available
Journal Title:
Chinese Journal of Ocular Fundus Diseases
Issue:
7
DOI:
10.3760/cma.j.cn511434-20240313-00103
Key Word:
核基因;遗传性视神经病变;视神经萎缩;OPA基因突变 ;综述;Nuclear gene;Hereditary optic neuropathy;Optic atrophy;OPA gene mutation ;Review

Abstract: Mutations in optic atrophy ( OPA) genes can lead to a similar phenotype, namely optic atrophy, which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms, mostly related to the nervous system. Currently, a total of 13 OPA genes have been discovered, covering a variety of inheritance patterns, including chromosomal dominant inheritance, autosomal recessive inheritance, and X- linked inheritance. Through genetic testing and analysis of patients, it is possible to accurately determine whether they carry mutation genes related to optic atrophy, and predict the progression of the disease and potential complications accordingly. This not only provides valuable genetic counseling and fertility planning guidance for patients and their families, but also helps better understand the disease, discover new therapeutic targets, and lay the foundation for developing more precise and effective drugs or gene therapies in the future.

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