Kessel Line, Bertelsen Mette, Klemp Kristian, Christensen Ulrik Correll
Afdeling for Øjensygdomme, Københavns Universitetshospital - Rigshospitalet Glostrup.
Institut for Klinisk Medicin, Det Sundhedsvidenskabelige Fakultet, Københavns Universitet.
Ugeskr Laeger. 2022 Nov 7;184(45).
Inherited retinal disorders (IRD) are a common cause of severe visual impairment among children and young adults in Denmark. Gene therapy with voretigene neparvovec for a specific, and in Denmark common, cause of IRD (RPE65-related retinal dystrophy) was implemented as standard clinical practice in 2020 as the first of its kind. Twelve Danish patients have been treated with very positive outcomes. Genetically based therapies for other genetic causes of IRD are underway in clinical trials and are expected to change the outlooks for patients who would otherwise become blind early in life.
遗传性视网膜疾病（IRD）是丹麦儿童和年轻人严重视力障碍的常见原因。2020年，针对一种特定的、在丹麦较为常见的IRD病因（RPE65相关视网膜营养不良），用voretigene neparvovec进行基因治疗作为标准临床实践得以实施，这尚属首例。12名丹麦患者接受了治疗，结果非常积极。针对IRD其他遗传病因的基因疗法正在临床试验中进行，预计将改变那些否则将在生命早期失明的患者的前景。
