Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype

被引：3

作者：

Bergman, Zachary ^{[1
]}

Anderson, Katherine ^{[2
]}

Kuchtey, Rachel W. W. ^{[1
,3
,4
]}

机构：

[1] Vanderbilt Univ, Vanderbilt Eye Inst, Dept Ophthalmol & Visual Sci, Med Ctr, Nashville, TN USA

[2] Vanderbilt Univ, Vanderbilt Heart & Vasc Inst, Div Cardiovasc Med, Med Ctr, Nashville, TN USA

[3] Vanderbilt Univ, Dept Mol Physiol & Biophys, Nashville, TN USA

[4] Vanderbilt Eye Inst, 2311 Pierce Ave, Nashville, TN 37232 USA

来源：

JAMA OPHTHALMOLOGY | 2023年 / 141卷 / 06期

关键词：

D O I：

10.1001/jamaophthalmol.2023.1488

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

This case report describes a patient diagnosed at age 13 years with glaucoma who later presented with elevated intraocular pressure, severe cupping, open iridocorneal angle, and lens dislocation.

引用

页码：607 / 609

页数：3

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