A 6-year-old girl with mucopolysaccharidoses type 1 with a Hurler-Scheie phenotype, who was receiving weekly enzyme replacement therapy, presented for an ophthalmological evaluation. Her best-corrected visual acuity was 20/50 OD and 20/40 OS. Mild corneal clouding was noted. Fundus photography and spectral-domain optical coherence tomography showed choroidal deposits in both eyes (Figure). Comprehensive visual electrophysiology testing had normal results. There was no progression over the next 3 years.
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Kapoor S, Liasis A, Nischal KK. Choroidal Deposits in a Patient With Mucopolysaccharidoses Type 1. JAMA Ophthalmol. 2020;138(8):e194435. doi:10.1001/jamaophthalmol.2019.4435
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