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• 영문명: Dominant Optic Atrophy
• 발행기관: 대한검안학회
• 저자명: 전보영(Bo Young Chun)
• 간행물 정보: 『Annals of optometry and contact lens』Vol.19 No.2, 27~29쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.06.30

영문 초록

Dominant optic atrophy (DOA) is the most commonly diagnosed inherited optic atrophy, causing progressive bilateral visual loss that begins early in life. This review provides a summary of recent advances in the understanding of the clinical manifestations, genetic, and pathophysiological basis of this disease. Loss of optic atrophy 1 (OPA1) protein function by OPA1 gene mutations causes mitochondrial dysfunction, which in turn leads to increased reactive oxygen species levels in mitochondria and possibly insufficient adenosine triphosphate production. The histopathological hallmark of DOA is the primary degeneration of retinal ganglion cells, preferentially in the papillomacular bundle, which results temporal optic disc pallor and cecocentral scotomas in patients with DOA. There are no effective treatments for DOA, although clinical investigations are underway.

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키워드

Dominant optic atrophy Hereditary optic neuropathy Mitochondrial dysfunction Optic atrophy 1 gene mutation Retinal ganglion cell degeneration