青少年开角型青光眼临床表型及遗传学特征

Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma

青少年开角型青光眼(juvenile-onset open-angle glaucoma,JOAG)是常染色体显性遗传性疾病,具有发病年龄早、眼压高和进展快等特点。本文回顾了JOAG的临床表型、相关基因及功能,为建立基因型和表型之间的联系,为探讨青光眼的发病机制提供帮助。

Juvenile-onset open-angle glaucoma （JOAG） is an autosomal dominant hereditary disease, which is characterized by its early onset, high intraocular pressure （IOL） and rapid progression. Clinical phenotypes of JOAG patients and their genetic functions are reviewed in this article so as to establish the relationship between JOAG phenotypes and genotypes and to provide clues for the disease mechanism of glaucoma.