Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
Department of Ophthalmology, Children Hospital Queen Fabiola, Brussels, Belgium.
Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17.
Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has been reported in the affected patients. Here we provide detailed clinical description of 3 individuals with Knobloch syndrome. Ocular examination and fundus imaging have been performed. Detailed information about systemic conditions has been provided. Mutations in were identified in all three patients. Patient 1 had congenital hip dislocation and patient 2 had renal atrophy, cardiac insufficiency and difficult skin healing. With this report we add to the clinical and genetic knowledge of this rare condition.
诺布洛克综合征（OMIM 267750）是一种罕见的常染色体隐性遗传病，由 基因突变引起。高度近视、枕骨缺损、玻璃体视网膜变性三联征已被描述为该疾病的特征性表现。诺布洛克综合征患者还存在脑和肾脏畸形等眼部以外的问题。据报道，受影响的患者存在高度的遗传和表型变异。在这里，我们提供了 3 名诺布洛克综合征患者的详细临床描述。进行了眼部检查和眼底成像。提供了有关全身状况的详细信息。在所有 3 名患者中均发现了 基因突变。患者 1 患有先天性髋关节脱位，患者 2 患有肾萎缩、心脏功能不全和皮肤愈合困难。通过本报告，我们增加了对这种罕见疾病的临床和遗传认识。
