Kim Ben J, Fulton Anne B
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA.
Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. doi: 10.1080/08820530701745108.
Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.
阿拉吉列综合征是一种由JAG1基因突变引起的常染色体显性疾病。JAG1基因编码一种Notch受体的配体，因此是发育过程中关键信号通路的一部分。眼科医生可以通过识别阿拉吉列综合征的特征性眼部表现，在该病的诊断中发挥重要作用。这些表现包括后胚胎环、视盘玻璃膜疣、视网膜血管成角和色素性视网膜病变。尽管阿拉吉列综合征的遗传学研究最近取得了进展，但基因型与表型之间的相关性仍未完全明确。
