Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

被引：8

作者：

Esfandiari, Hamed ^{[1
,2
]}

Mets, Marilyn B. ^{[1
,2
]}

Kim, Katherine H. ^{[3
,4
]}

Kurup, Sudhi P. ^{[1
,2
]}

机构：

[1] Ann & Robert H Lurie Childrens Hosp Chicago, Div Ophthalmol, 225 E Chicago Ave,Box 70, Chicago, IL 60611 USA

[2] Northwestern Univ, Dept Ophthalmol, Feinberg Sch Med, Chicago, IL 60611 USA

[3] Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA

[4] Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA

来源：

OPHTHALMIC GENETICS | 2019年 / 40卷 / 06期

关键词：

Congenital disorders of glycosylation; CDG-Ig; carbohydrate-deficient glycoprotein syndrome; ocular abnormalities; facial dysmorphism; retinitis pigmentosa; cataract; DEFICIENCY; SPECTRUM;

D O I：

10.1080/13816810.2019.1692361

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature. Materials and Methods: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12. Results: In addition to typical systemic findings of CDG, our case was found to have exotropia, bilateralcataracts, and retinitis pigmentosa with extinguished electroretinography in photopic and scotopic conditions. Conclusions: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.

引用

页码：549 / 552

页数：4

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