Treatment of uncontrolled intraocular pressure secondary to uveal melanoma status post plaque radiotherapy with ab interno XEN gel stent implantation.

Purpose: To report treatment of uncontrolled intraocular pressure in a patient with uveal melanoma status post plaque radiotherapy with ab interno XEN gel stent implantation. Observations: A 21-year-old female with a history of iris and ciliary body melanoma underwent treatment with plaque radiotherapy with subsequent elevation of intraocular pressure refractory to maximum medical therapy. In order to control the pressure, ab interno XEN gel stent implantation with mitomycin C was recommended. Preoperatively, the patient was on four topical medications and oral acetazolamide with intraocular pressure of 39 mmHg by Goldmann applanation tonometry. The patient's intraocular pressure was reduced to 10 mmHg at her final postoperative visit on no medications. Visual acuity showed minimal degradation measuring 20/100 preoperatively and 20/150 eleven months after XEN gel stent implantation with VA improvement to 20/60 with refraction after cataract extraction at eighteen months. There were no postoperative complications and no recurrence or seeding of the uveal melanoma at follow up 18 months after her XEN gel stent implantation. Conclusions and Importance: Ab interno XEN gel stent implantation with mitomycin C may offer an effective method to control intraocular pressure in patients with refractory intraoperative pressure control following plaque radiotherapy treatment for uveal melanoma.

Diagnostic Utility of CDC DPDx for an Atypical Presentation of Infectious Crystalline Keratopathy-Like Infiltrate Secondary to Microsporidia.

PURPOSE: To report a case of atypical infectious crystalline keratopathy-like stromal infection secondary to microsporidia wherein diagnosis of the causative organism was aided by use of the Center for Disease Control (CDC) DPDx program. METHODS: We report the case of a 73-year-old woman who presented with atypical infectious crystalline keratopathy-like corneal infection without previous surgical history. RESULTS: The patient had previously been treated for recalcitrant corneal infection with topical antibiotics and steroids at an outside provider before referral. Further treatment with topical fortified antibiotics failed to improve the infection. Corneal biopsy was performed and sent to the CDC DPDx for diagnostic confirmation for presumptive microsporidia. The patient underwent therapeutic penetrating keratoplasty without recurrence of ocular infection. CONCLUSIONS: Utilization of the DPDx resource may help guide appropriate and timely diagnosis and management strategies in atypical presentations of infectious keratitis.

Bilateral Combined Hamartomas of the Retina and Retinal Pigment Epithelium as the Presenting Feature of Neurofibromatosis Type 2 (Wishart Type).

An 8-week-old healthy female infant manifested leukocoria and reduced vision in the left eye. She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium. There were no other features of neurofibromatosis type 2 and brain imaging was normal. At 6 months of age, subtle posterior subcapsular lens opacity was noted in the right eye. Genetic testing for neurofibromatosis type 2 was advised but not performed. At 3 years of age, leg weakness with quadriceps atrophy led to neuroimaging and detection of multiple tumors, including bilateral vestibular schwannomas and cervical, thoracic, and lumbar paraspinal schwannomas. Molecular testing revealed a nonsense mutation in the neurofibromatosis type 2 gene. Bilateral combined hamartomas were the presenting feature of a severe phenotype of neurofibromatosis type 2.

Bilateral combined hamartomas of the retina and retinal pigment epithelium as the presenting feature of neurofibromatosis type 2 (Wishart Type).

An 8-week-old healthy female infant manifested leukocoria and reduced vision in the left eye. She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium. There were no other features of neurofibromatosis type 2 and brain imaging was normal. At 6 months of age, subtle posterior subcapsular lens opacity was noted in the right eye. Genetic testing for neurofibromatosis type 2 was advised but not performed. At 3 years of age, leg weakness with quadriceps atrophy led to neuroimaging and detection of multiple tumors, including bilateral vestibular schwannomas and cervical, thoracic, and lumbar paraspinal schwannomas. Molecular testing revealed a nonsense mutation in the neurofibromatosis type 2 gene. Bilateral combined hamartomas were the presenting feature of a severe phenotype of neurofibromatosis type 2.