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Case Reports
. 2025 Apr 8:38:102320.
doi: 10.1016/j.ajoc.2025.102320. eCollection 2025 Jun.

Proliferative retinopathy in nail-patella syndrome

Liangbo Linus Shen  1 , Amelia Bhisitkul  1 , Gregory M Lewis  2 , Sidhiporn Borirakchanyavat  2 , Robert B Bhisitkul  1
Affiliations
Case Reports

Proliferative retinopathy in nail-patella syndrome

Liangbo Linus Shen et al. Am J Ophthalmol Case Rep. .

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.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Systemic manifestations of patient with nail-patella syndrome. A, B, Hypoplastic thumb-nails of the both hands. C, Absent patella in the right knee and small patella in the left knee.
Fig. 2
Fig. 2
Retinal imaging of patient with nail-patella syndrome at presentation. A and B, Color photographs of the optic disc showing the neovascularization (arrows) at the optic disc of the right (A) and left (B) eyes. C and D, Fluorescein angiography of the right (C) and left (D) eyes demonstrating bilateral neovascularization (arrows) at the optic disc and leakage in the macula as well as cystoid macular edema (arrows) and patchy choroidal staining without significant capillary dropout. E and F, Wide-field fluorescein angiogram of the right (E) and left (F) eyes, demonstrating no significant capillary dropout or peripheral nonperfusion in either eye.
Fig. 3
Fig. 3
Optical coherence tomography of the right (A) and left (B) eyes in the patient with nail-patella syndrome at presentation demonstrating cystoid macular edema.
See this image and copyright information in PMC

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