Pigmented Paravenous Chorioretinal Atrophy and Mucopolysaccharidosis: A Case Report
Zineb Algouti1, Houda Bezza1, Mohamed Kriet1
1Department of Ophthalmology, Avicenna Military Hospital, Faculty of Medicine and Pharmacy, Caddi Ayyad University, Marrakech, Morocco.
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.
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