常染色体显性遗传性视网膜色素变性。

Autosomal Dominant Retinitis Pigmentosa.

机构信息

Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

出版信息

Adv Exp Med Biol. 2018;1085:69-77. doi: 10.1007/978-3-319-95046-4_15.

DOI:10.1007/978-3-319-95046-4_15

PMID:30578488

Abstract

More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15-25% of cases; AR, 5-20%; X-linked, 5-15%; and simplex, 40-50%.

摘要

已知超过 70 个基因（超过 3000 种突变）可导致非综合征性视网膜色素变性（RP），包括常染色体显性（AD）、常染色体隐性（AR）、X 连锁和单纯形式（未知遗传方式）。AD 形式约占病例的 15-25%；AR 形式占 5-20%；X 连锁形式占 5-15%；单纯形式占 40-50%。