Fovea Plana and Fundus Hypopigmentation in Prader-Willi Syndrome

Retinal Cases & Brief Reports(2023)

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摘要
Purpose: To report a case of fovea plana with fundus hypopigmentation in a patient with Prader-Willi syndrome (PWS). Case report: During a routine examination, fovea plana and fundus hypopigmentation were observed in both eyes in a 34-year-old male patient with PWS, and documented with fundus photography, spectral-domain optical coherence tomography (SD-OCT) and OCT-angiography. Conclusion: Fovea plana and fundus hypopigmentation may be associated with PWS. Indeed, both PWS and oculocutaneous albinism (OCA) may be explained by the deletion of the same genomic region on chromosome 15. The present case of a PWS patient with fundus hypopigmentation supports the genetic and clinical overlap between PWS and OCA.
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fundus hypopigmentation,prader-willi
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