彼得斯综合征合并 B3GLCT 基因突变相关脉络膜视网膜病变一例报告。
Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
机构信息
Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA.
Harvard Eye Associates, Laguna Hills, CA, 92653, USA.
出版信息
BMC Ophthalmol. 2020 Mar 23;20(1):118. doi: 10.1186/s12886-020-01380-6.
BACKGROUND
Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement.
CASE PRESENTATION
In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. The chorioretinal findings were characterized with spectral-domain optical coherence tomography.
CONCLUSIONS
Our report expands the phenotypic descriptions of PPS by characterizing posterior segment findings.
背景
彼得斯综合征（PPS）是先天性彼得斯异常和全身异常的组合。它最常见的遗传方式是常染色体隐性遗传，伴有 B3GLCT 基因突变的纯合子。眼部表现主要为前节异常，不伴有后节受累。
病例介绍
在本次报告中，我们报道了一例 B3GLCT 基因纯合致病性变异所致 PPS 病例，表现为典型的前节异常、全身异常及非典型的双侧脉络膜视网膜萎缩。脉络膜视网膜病变的特征是采用频域光学相干断层扫描。
结论
我们的报告通过描述后节发现，扩展了 PPS 的表型描述。
Zotero 插件