In:
Korean Journal of Ophthalmology, Korean Ophthalmological Society, Vol. 37, No. 2 ( 2023-04-05), p. 166-186
Abstract:
Mutations in the 〈 i 〉 RPE65 〈 /i 〉 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with 〈 i 〉 RPE65 〈 /i 〉 -associated retinal dystrophy is available in clinical practice. 〈 i 〉 RPE65 〈 /i 〉 gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because 〈 i 〉 RPE65 〈 /i 〉 -associated retinal dystrophy shares common clinical characteristics, such as early-onset severe nyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other genetic mutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal in early childhood, and the phenotype is highly variable depending on the type of mutations in 〈 i 〉 RPE65 〈 /i 〉 -associated retinal dystrophy, which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of 〈 i 〉 RPE65 〈 /i 〉 -associated retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of 〈 i 〉 RPE65 〈 /i 〉 -related retinal dystrophy.
Type of Medium:
Online Resource
ISSN:
1011-8942
,
2092-9382
DOI:
10.3341/kjo.2023.0008
Language:
English
Publisher:
Korean Ophthalmological Society
Publication Date:
2023
detail.hit.zdb_id:
2539835-0