[视网膜色素变性]
[Retinitis pigmentosa].
作者信息
Bruninx R, Lepièce G
机构信息
Service d'Ophtalmologie, CHR Citadelle, Centre de Réadaptation Fonctionnelle La Lumière, Liège, Belgique.
Service d'Ophtalmologie, CHR Citadelle, Liège, Belgique.
出版信息
Rev Med Liege. 2020 Feb;75(2):73-74.
Retinitis pigmentosa is the most frequent hereditary dystrophy of the retina, with a global prevalence of 1/4.000. The underlying mechanism involves progressive loss, first of the rod photoreceptor cells, followed by the cone photoreceptor cells. Finally, complete blindness may occur. Genetic transmission is known but most cases are sporadic. Few effective treatments exist nowadays and hence regular follow-up is required in a revalidation center.
视网膜色素变性是最常见的遗传性视网膜营养不良，全球患病率为1/4000。其潜在机制涉及光感受器细胞的渐进性丧失，首先是视杆细胞，随后是视锥细胞。最终可能会导致完全失明。遗传传递方式已知，但大多数病例为散发性。目前几乎没有有效的治疗方法，因此需要在复查中心进行定期随访。
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