Multimodal Imaging of Severe Oxalate Retinopathy in a 20-Month-Old Boy

Abstract

Primary hyperoxaluria type 1 (PH1) is a rare disease due to alanine glyoxylate aminotransferase enzyme deficiency caused by mutations in AGXT gene. Increased oxalate causes crystalline deposits in the eye particularly in conjunctiva, cornea, iris, retina, and choroid. A 20-month-old boy was referred with a diagnosis of infantile PH1. There were numerous yellowish crystalline deposits at the posterior pole and hyperpigmented lesions were detected around the macula. Enhanced depth imaging optical coherence tomography (EDI-OCT) revealed dome-shaped retinal pigment epithelium elevations, subretinal and intraretinal hyperreflective material and also choroidal hyperreflective lesions. To the best of our knowledge, this is the first case to document choroidal deposition by EDI-OCT at such an early period of life. [Ophthalmic Surg Lasers Imaging Retina 2022;53:697-700.].