Vici综合征在眼科的表现

The performance of Vici syndrome in ophthalmology

Vici综合征是一种罕见的常染色体隐性遗传病,涉及全身多个系统的紊乱。主要的临床表现是大脑胼胝体区发育不良、心肌症、联合免疫缺陷、白内障以及皮肤毛发等色素减退;同时伴有生长发育迟缓、小头畸形、唇腭裂及癫痫等症状。该综合征在眼科方面主要表现为双眼核性以及前极性白内障、眼球震颤、视神经萎缩以及眼底轻度的色素减退。该综合征的病因是18号染色体长臂上调控“细胞自噬”功能的EPG5基因发生突变。(国际眼科纵览,2018,42:409-413)

Vici syndrome is a rare autosomal recessive inherited disease, which includes multisystem disorder of the body. Vici syndrome is characterized by agenesis of the corpus callosum, cardiomyopathy, combined immunodeficiency, cataracts and oculocutaneous hypopigmentation;profound developmental-delay, acquired microcephaly, cleft lip/palate and seizures are also involvement. The ophthalmological features of Vici syndrome include bilateral nuclear and anterior polar cataracts, nystagmus, bilateral optic nerve atrophy, and moderate fundus hypopigmentation. The condition is due to recessive mutations in the EPG5 autophagy gene on chromosome 18q. (Int Rev Ophthalmol,2018,42:409-413)