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

Autor: Pallozzi Lavorante N; Clinica Oculistica, DINOGMI, University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Iester M; Clinica Oculistica, DINOGMI, University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Bonzano C; Clinica Oculistica, DINOGMI, University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Bagnis A; Clinica Oculistica, DINOGMI, University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Traverso CE; Clinica Oculistica, DINOGMI, University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Cutolo CA; Clinica Oculistica, DINOGMI, University of Genoa, Genova, Italy.; IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Jazyk: angličtina
Zdroj: Case reports in ophthalmology [Case Rep Ophthalmol] 2022 Nov 24; Vol. 13 (3), pp. 984-990. Date of Electronic Publication: 2022 Nov 24 (Print Publication: 2022).
DOI: 10.1159/000527234
Abstrakt: 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 angle-closure phenotype. Therefore, we emphasize the need for glaucoma case-finding protocols comprehensive of gonioscopy in NPS patients and their relatives.
Competing Interests: The authors have no conflicts of interest to declare.
(© 2022 The Author(s). Published by S. Karger AG, Basel.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje