Vitreous abnormalities in a patient with Gaucher disease

Purpose: To report a case and management of vitreous abnormalities in a patient with Gaucher disease. Methods: Case report. Results: A 28-year-old female with a known diagnosis of Gaucher disease presented to our retina service with complaints of “blurry” vision in both eyes. Ophthalmic examination revealed a Snellen visual acuity of 20/70 OD and 20/20 OS. The anterior segment examination was unremarkable bilaterally; however, the vitreous was notable for multiple yellowish-white vitreous opacifications in both eyes. Fluorescein angiography revealed the opacities but was otherwise unremarkable in terms of retinal vascular findings. Swept-source optical coherence tomography confirmed the position of these vitreous abnormalities to be directly anterior to and in contact with the retinal nerve fiber layer. She subsequently underwent 23-gauge pars plana vitrectomy to remove the vitreous debris; Triamcinolone Acetate (Kenalog) was used intraoperatively to visualize the posterior hyaloid. The cassette was sent for pathological analysis, which revealed amorphous vitreous material with occasional lymphocytes and histiocytes. Her post-vitrectomy Snellen visual acuity was 20/40 OD with pinhole to 20/25, and the patient reported resolution of her subjective symptoms. Her opacities had not recurred as of last follow-up. Conclusion: Vitreous abnormalities in Gaucher disease are an extremely rare and uncommon ophthalmologic finding. As our case demonstrates, vitrectomy can be an appropriate surgical approach for improving vision in these patients.