Abstract
PURPOSE: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). OBSERVATION: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle-closure secondary to plateau iris. At the time of her NPS diagnosis, she had no ocular pathology. Genetic testing revealed a rare de novo mutation in LMX1B [c.668G>C (p.Arg223Pro)]. Two years later, she experienced acute bilateral ocular pain and blurred vision in the setting of one year of reported visual loss. Subsequent ophthalmic examinations revealed closed angles and plateau iris OU with ACG OD and angle-closure OS. Perimetry showed superonasal visual field defects OD and no defects OS. Ocular coherence tomography (OCT) revealed thinning of the inferior pole of the optic nerve OD. Medical management proved ineffective. A laser peripheral iridotomy (LPI) OD was performed, without resolution of the angle-closure, and a diagnosis of plateau iris syndrome (PIS) was made. She was then treated with an argon laser peripheral iridoplasty (ALPI) and clear lens extraction with a posterior chamber intraocular lens (PCIOL) and goniosynechialysis OD, but her IOP remained elevated OU. She was referred to New York Eye and Ear Infirmary of Mount Sinai, where an LPI OS was performed, but angle-closure persisted, consistent with PIS. An ALPI OS with touch-up was performed, and her IOP normalized with dark-room gonioscopy revealing open angles OU. CONCLUSIONS AND IMPORTANCE: NPS has been associated with ocular hypertension (OHTN) and open-angle glaucoma (OAG); however, to our knowledge, no association between NPS and angle-closure has previously been reported. The case described here, of a patient with a rare de novo mutation and ocular findings of PIS with associated ACG, represents a novel genetic and clinical presentation of NPS.