Gandhi Jarel K, Tollefson Travis T, Telander David G
Department of Ophthalmology and Vision Science and.
Ophthalmic Genet. 2014 Jun;35(2):112-6. doi: 10.3109/13816810.2013.779382. Epub 2013 Mar 22.
Familial exudative vitreoretinopathy (FEVR) is a genetic disease caused by abnormal retinal vascular development. New additional genetic loci for FEVR have recently been identified. Microduplication of 22q11.2 has been reported with a heterogeneous phenotype and microdeletion of 22q11.2 has been associated with FEVR. We describe a case of a girl with microduplication of 22q11.2 and falciform macular folds.
The infant and first-degree relatives were examined. A dilated fundus examination was performed. Genetic screening was done by chromosomal microarray analysis and confirmed by fluorescent in situ hybridization (FISH).
Bilateral macular folds were found with temporal fibrosis in the proband. A chromosomal microarray revealed a 2.21 Mb microduplication of the 22q11.2 region.
This is the first report to associate microduplication of 22q11.2 with macular folds, supporting the potential for a FEVR locus on chromosome 22q11.2. We encourage full ophthalmological examination for patients with microduplication of 22q11.2 to identify ocular associations.
家族性渗出性玻璃体视网膜病变（FEVR）是一种由视网膜血管发育异常引起的遗传性疾病。最近已鉴定出FEVR的新的额外基因位点。已有报道22q11.2微重复具有异质性表型，且22q11.2微缺失与FEVR相关。我们描述了一例患有22q11.2微重复和镰状黄斑皱襞的女孩病例。
对该婴儿及其一级亲属进行了检查。进行了散瞳眼底检查。通过染色体微阵列分析进行基因筛查，并通过荧光原位杂交（FISH）进行确认。
在先证者中发现双侧黄斑皱襞伴颞侧纤维化。染色体微阵列显示22q11.2区域存在2.21 Mb的微重复。
这是首次将22q11.2微重复与黄斑皱襞相关联的报告，支持22q11.2上存在FEVR基因位点的可能性。我们鼓励对22q11.2微重复患者进行全面的眼科检查，以确定眼部关联情况。
