Proliferative retinopathy in nail-patella syndrome.

Liangbo Linus Shen, Amelia Bhisitkul, Gregory M Lewis, Sidhiporn Borirakchanyavat, Robert B Bhisitkul

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Article in American journal of ophthalmology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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5 authors.

Liangbo Linus ShenDepartment of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, 490 Illinois Street, 54H, San Francisco, CA, USA.

Amelia BhisitkulDepartment of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, 490 Illinois Street, 54H, San Francisco, CA, USA.

Gregory M LewisDepartment of Ophthalmology, Kaiser Permanente Medical Group, San Francisco, CA, USA.

Sidhiporn BorirakchanyavatDepartment of Ophthalmology, Kaiser Permanente Medical Group, San Francisco, CA, USA.

Robert B BhisitkulDepartment of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, 490 Illinois Street, 54H, San Francisco, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Nail-Patella Syndrome (NPS) is a rare autosomal dominant disease. Associated ocular abnormalities in NPS are well established, involving the anterior segment and predisposition to open-angle glaucoma. We report a patient with NPS who presented with bilateral proliferative retinopathy and cystoid macular edema (CME). Observations: A 45-year-old male with genetically confirmed NPS presented with typical systemic features of NPS, including dystrophic nails, hypoplastic patellae, and limited elbow extension. He had vision loss associated with optic disc neovascularization (NVD), vitreous hemorrhage, and CME in both eyes. Systemic work-up ruled out common causes of proliferative retinopathy. Treatment with intravitreal bevacizumab and subsequent aflibercept injections partially improved the retinal pathology. Conclusion and importance: This case documents retinal abnormalities, specifically proliferative retinopathy and CME, in a patient with NPS. These findings suggest that retinal pathology might be an aspect of NPS, highlighting the importance of fundus exams and retinal imaging for patients with NPS who present with visual symptoms.

Identifiers

PMID40271081

DOI10.1016/j.ajoc.2025.102320

PMCPMC12017845

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