Zineb Algouti, Houda Bezza, Mohamed Kriet, Fouad El Asri
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引用次数: 0
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.
期刊介绍：
Peer Review under the responsibility of Iranian Society of Ophthalmology Journal of Current Ophthalmology, the official publication of the Iranian Society of Ophthalmology, is a peer-reviewed, open-access, scientific journal that welcomes high quality original articles related to vision science and all fields of ophthalmology. Journal of Current Ophthalmology is the continuum of Iranian Journal of Ophthalmology published since 1969.
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