TY - JOUR
T1 - Nail-Patella Syndrome
T2 - Optical Coherence Tomography Angiography Findings
AU - Zuberi, Hafsa Z.
AU - Angirekula, Ashika
AU - Akram, Muhammad R.
AU - Kooner, Karanjit S.
N1 - Publisher Copyright:
© 2022 S. Karger AG. All rights reserved.
PY - 2022/3/29
Y1 - 2022/3/29
N2 - 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.
AB - 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.
KW - Glaucoma
KW - Nail-patella syndrome
KW - Ocular hypertension
KW - Optical coherence tomography angiography
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U2 - 10.1159/000523984
DO - 10.1159/000523984
M3 - Article
C2 - 35611018
AN - SCOPUS:85128464387
SN - 1663-2699
VL - 13
SP - 227
EP - 233
JO - Case Reports in Ophthalmology
JF - Case Reports in Ophthalmology
IS - 1
ER -