色素性视网膜炎
视网膜变性
医学
眼科
基因座异质性
表型
移植
基因型-表型区分
遗传学
遗传异质性
视网膜
生物
基因
外科
出处
期刊:PubMed
日期:2009-03-01
卷期号:45 (3): 193-5
标识
DOI:10.3760/cma.j.issn.0412-4081.2009.03.001
摘要
Retinitis pigmentosa (RP) is the most common inherited eye disease that usually leads into blind, and is high simplex and clinical heterogeneity. Recent years, some new hereditary forms have been found, such as digenic RP, mitochondrial RP, incomplete dominant inheritance RP. The phenotype of RP is multiplicity. Incompatible phenomenon between genotype and phenotypes was shown in some genes such as peripherin/RDS, RHO, RP2 and RP3. The complicated phenotype was shown in the rare RP forms, such as centricity RP, stemma RP, retinitis pigmentosa sine pigmento, and retinal degeneration slow. Retinal transplantation, retinal implantation, drug and neurotrophic factor therapy, and gene therapy have been well studied worldwide and presented some hopeful efficacy. Ophthalmologists and practitioners should cognize the new advance and new knowledge on RP therapy with a scientific view for better serving the RP patients.
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