期刊
CURRENT OPINION IN OPHTHALMOLOGY
卷 22, 期 5, 页码 347-355出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ICU.0b013e32834922d2
关键词
congenital glaucoma; CYP1B1; genetics; infantile glaucoma; juvenile glaucoma; MYOC; open angle glaucoma
Purpose of review To provide an overview of the genetics of the primary open-angle glaucomas with particular attention to congenital, infantile, and juvenile forms. Recent findings Mutations in CYP1B1, in addition to being the most common identifiable cause of autosomal recessive primary congenital/infantile glaucoma, can infrequently underlie juvenile and even primary adult-onset open-angle glaucoma, particularly in certain consanguineous populations. In 2009, patients diagnosed with congenital/infantile glaucoma were found to have recessive mutations in a second gene, LTBP2, with a phenotypic spectrum that includes primary megalocornea, spherophakia with ectopia lentis, and lens-related glaucoma. The most common identifiable cause of primary juvenile open-angle glaucoma across most populations remains heterozygous (autosomal dominant) MYOC mutation, underlying up to one-third of cases and possibly sometimes involved in earlier and later onset glaucomas Although primary adult-onset open-angle glaucoma usually does not follow simple Mendelian genetics and is etiologically complex, genome-wide association studies are uncovering genetic susceptibility factors. In some cases, primary adult-onset open-angle glaucoma can be caused by heterozygous mutation in MYOC, OPTN, or WDR36. In addition, in 2009, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients from a German cohort. Summary Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families. In western populations, dominant MYOC mutation remains a common cause of primary open-angle juvenile glaucoma and infrequently can be implicated in congenital/infantile or adult-onset forms; identified families should undergo genetic counseling. Primary adult-onset open-angle glaucoma rarely follows simple Mendelian genetics, but genomic studies in different populations are revealing potential genetic risk factors for the phenotype.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据