Nail-patella syndrome

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

Open angle glaucoma

A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,


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PMID (PMCID)
21850167
(3154131)
 MIXED_SAMPLE Adult
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.
Romero P, Sanhueza F, Lopez P, Reyes L, Herrera L.
Mol Vis. 2011;17:1929-39.
To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular hypertension (OHT) in the family members.