UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal.
Portuguese Association for CDG, Lisbon, Portugal.
J Inherit Metab Dis. 2019 Jan;42(1):29-48. doi: 10.1002/jimd.12025.
Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N-glycosylation-deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O-glycosylation defects with the aim of assisting diagnosis and management and promoting research.
先天性糖基化障碍（CDG）是一个快速增长的家族，包括>100 种遗传疾病。约有 25 种 CDG 是纯 O-糖基化缺陷。即使在这个 CDG 亚组中，表型多样性也很广泛，从轻度到严重的多器官/系统功能障碍。这些 CDG 中有 60%存在眼部表现。N-糖基化缺陷患者的眼部表现已在其他地方描述过。本综述记录了纯 O-糖基化缺陷患者眼部疾病的谱和发生率，旨在协助诊断和管理，并促进研究。
