Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings

• Published in: Case reports in ophthalmology Vol. 13; no. 1; pp. 227 - 233
• Main Authors: Zuberi, Hafsa Z., Angirekula, Ashika, Akram, Muhammad R., Kooner, Karanjit S.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01-01-2022; Karger Publishers
• Subjects: Case Report; Case reports; Glaucoma; Hypertension; Iris; Medical imaging; Mutation; nail-patella syndrome; ocular hypertension; optical coherence tomography angiography; Optics; Patients; Range of motion; Tomography; Transcription factors; United States > US; Glaucoma; Optical coherence tomography angiography; Nail-patella syndrome; Ocular hypertension
• ISSN: 1663-2699; 1663-2699
• DOI: 10.1159/000523984

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.