Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings

被引:1
作者
Zuberi, Hafsa Z. [1 ]
Angirekula, Ashika [1 ]
Akram, Muhammad R. [1 ]
Kooner, Karanjit S. [1 ,2 ]
机构
[1] Univ Texas Southwestern Med Ctr Dallas, Dept Ophthalmol, Dallas, TX 75390 USA
[2] Vet Affairs North Texas Hlth Care Syst Med Ctr, Dept Ophthalmol, Dallas, TX 75216 USA
来源
CASE REPORTS IN OPHTHALMOLOGY | 2022年 / 13卷 / 01期
关键词
Nail-patella syndrome; Glaucoma; Ocular hypertension; Optical coherence tomography angiography;
D O I
10.1159/000523984
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
We describe a 51-year-old Hispanic female with nail-patella syndrome (NPS), a rare genetic disease with a wide range of systemic features such as nail dysplasia and finger abnormalities, elbow webbing, iliac horn, patellar subluxation, and proteinuria. Some patients additionally have a history of glaucoma and other ocular features such as thick central corneal thickness, Lester's sign, prominent iris processes, and optic nerve cupping. Our patient had a history of glaucoma suspicion, prominent iris processes, increased cup to disc ratios, tilted optic discs, and tigroid fundi. In addition, we report optical coherence tomography angiography (OCTA) findings of focal areas of poor vessel densities in the macular and circumpapillary regions of both eyes, suggesting early compromised vascular supplies to these areas. Our OCTA findings (which include both structural and vascular details of retina and optic nerve) lend support to the use of this technology in patients with NPS.
引用
收藏
页码:227 / 233
页数:7
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