弗兰克-特哈尔综合征的眼科表现：一对同胞病例报告

Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

作者信息

Chang Ta C, Bauer Mislen, Puerta Herminia S, Greenberg Matthew B, Cavuoto Kara M

机构信息

Bascom Palmer Eye Institute, Miami, Florida.

Nicklaus Children's Hospital, Division of Genetics and Metabolism, Miami, Florida.

出版信息

J AAPOS. 2017 Dec;21(6):514-516. doi: 10.1016/j.jaapos.2017.07.216. Epub 2017 Oct 31.

DOI:10.1016/j.jaapos.2017.07.216

PMID:29100834

Abstract

Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes. We report a sibling pair with FTHS caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene: one sibling had bilateral ocular hypertension and unilateral colobomas of iris, choroid and retina; the other, unilateral myelinated nerve fiber layer of the optic disk and papilledema due to idiopathic intracranial hypertension. Both children had refractive amblyopia and megalocornea.

摘要

弗兰克 - 特哈尔综合征（FTHS）是一种常染色体隐性疾病，其特征是影响骨骼、心脏和眼睛发育的异常情况。我们报告了一对患有FTHS的同胞兄妹，该病症由SH3PXD2B基因中的纯合新型突变pLys133Glnfs*13引起：其中一名同胞兄妹患有双侧高眼压以及虹膜、脉络膜和视网膜的单侧缺损；另一名则患有视盘单侧有髓神经纤维层以及由于特发性颅内高压导致的视乳头水肿。两个孩子均患有屈光性弱视和大角膜。