关键词: Norrie病, NDP基因相关视网膜病变, Norrie病蛋白, 玻璃体切除术

Abstract: Norrie’s disease is an X-linked recessive disorder characterized by retinal dysplasia and congenital or infantile blindness. Mutations in the Norrie’s disease protein (NDP) gene, which located on chromosome Xp11.3 might affect the formation of key disulfide bonds in the cystine-knot motif of norrin protein. The ocular phenotype in Norrie’s disease is typically characterized by a glistening mass known as a “pseudoglioma” behind the lens and thick fibrovascular proliferative vitreoretinopathy attached to the posterior aspect of the lens, and the extra-ocular manifestations of Norrie’s disease include hearing loss, cognitive impairment, behavior disturbance and seizures. Prenatal diagnosis and early retinal laser photocoagulation or vitrectomy intervention can improve the natural course of patients with Norrie’s disease to some extent. (Int Rev Ophthalmol, 2021, 45：437-442)

Key words: Norrie’s disease, NDP gene-related retinopathy, norrin, vitrectomy