医学
大疱性表皮松解症
皮肤病科
单纯大疱性表皮松解
遗传增强
失明
视力
病理
眼科
基因
验光服务
遗传学
生物
作者
Arianna Tovar Vetencourt,Ibrahim O. Sayed-Ahmed,J. E. Gomez,Hubert Chen,Brittani Agostini,Kate Carroll,Trevor J. Parry,Suma Krishnan,Alfonso L. Sabater
标识
DOI:10.1056/nejmoa2301244
摘要
SummaryDystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in COL7A1, which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness. Beremagene geperpavec (B-VEC) is a replication-deficient herpes simplex virus type 1–based gene therapy engineered to deliver functional human type VII collagen. Here, we report the case of a patient with cicatrizing conjunctivitis in both eyes caused by dystrophic epidermolysis bullosa who received ophthalmic administration of B-VEC, which was associated with improved visual acuity after surgery.
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