우성시신경위축
Dominant Optic Atrophy
전보영,
소속 상세정보
전보영 ( Chun Bo-Young )
Kyungpook National University School of Medicine Department of Ophthalmology
KMID : 1038920200190020027
Abstract
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.
키워드
Dominant optic atrophy; Hereditary optic neuropathy; Mitochondrial dysfunction; Optic atrophy 1 gene mutation; Retinal ganglion cell degeneration
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