A case of JOAG in a patient with Rett syndrome

Abstract

Purpose: In this report, we describe a case of juvenile open angle glaucoma in a patient with Rett syndrome. Observations: A 39- year-old white woman with a notable history of Rett syndrome was referred to our center with a ten-year diagnosis of juvenile open angle glaucoma. Initial exam was notable for complete cupping of the optic nerve. Upon follow up visits, intraocular pressures were elevated and remained refractory to multiple therapies, including SLT and pressure-lowering drops. Medical management was continued due to the risk of surgery and limited visual potential. Because it was declared that patient did not have substantial feedback to visual stimuli and did not exhibit any signs of pain, conservative management with drops was continued. Conclusion and importance: This is the first report of a patient with concurrent Rett syndrome and juvenile open angle glaucoma, thus expanding on the literature of an ocular manifestation occurring presumably coincidentally with this disorder.

Keywords

• Rett syndrome
• Juvenile open angle glaucoma