Abstract
PURPOSE: To report the atypical case of a patient with mucopolysaccharidosis type II (MPS II) in whom bilateral pigmented paravenous chorioretinal atrophy (PPRCA) was found. METHODS: An observational case report. RESULTS: We present the case of a 31-year-old male patient who presented with decreased visual acuity and in whom fundus examination and multimodal imaging revealed a typical appearance of bilateral symmetrical PPRCA. Our patient also had thick facies with hypertelorism and stubby hands, which prompted an enzyme assay revealing MPS II. CONCLUSIONS: PPRCA is an uncommon condition with an uncertain origin that continues to be a subject of debate. Our case represents an unusual association that points to a potential genetic origin; however, further studies are needed to understand this condition.