Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature

Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by nail dysplasia, aplastic or hypoplastic patellae, elbow dysplasia, and presence of iliac horns. Renal or ocular abnormalities are also associated with the disease. We report the case of a 57-year-old woman affected by NPS and having haploinsufficiency of the LMX1B gene who experienced severe bilateral chronic angle-closure glaucoma in both eyes and that was successfully managed with a flap-express procedure in the right eye. The left eye had no light perception, and medical treatment was considered. Glaucoma is the most frequent ocular abnormalities observed in association with NPS and usually presents with an open angle. Glaucoma associated with NPS typically has an early onset open-angle phenotype. In fewer cases, it may present with an angleclosure phenotype. Therefore, we emphasize the need for glaucoma case-finding protocols comprehensive of gonioscopy in NPS patients and their relatives.

Automated summary

Nail-patella syndrome (NPS) is a rare genetic disease characterized by abnormalities in the nails, patellae, and elbow joints, as well as the presence of iliac horns. Renal and ocular abnormalities are also associated with this syndrome. In this case report, we describe a NPS patient with haploinsufficiency of the LMX1B gene who developed severe bilateral chronic angle-closure glaucoma. The patient was successfully managed with a flap-express procedure in the right eye, while medical treatment was considered for the left eye. We emphasize the importance of screening for glaucoma, including gonioscopy, in NPS patients and their relatives.