Pigmented Paravenous Chorioretinal Atrophy and Mucopolysaccharidosis: A Case Report.

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.