Ophthalmology Center for Imaging and Laser, Paris, France.
Department of Ophthalmology, Intercity Hospital and University Paris Est, Creteil, France.
Retin Cases Brief Rep. 2024 Sep 1;18(5):647-650. doi: 10.1097/ICB.0000000000001441.
BACKGROUND/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 and optical coherence tomography-angiography.
Fovea plana and fundus hypopigmentation may be associated with PWS. Indeed, both PWS and oculocutaneous albinism may be explained by the deletion of the same genomic region on chromosome 15. The present case of a patient with PWS with fundus hypopigmentation supports the genetic and clinical overlap between PWS and oculocutaneous albinism.
背景/目的：报告一例普拉德-威利综合征（PWS）患者出现黄斑扁平伴眼底色素减退。
病例报告。
在对一名 34 岁男性 PWS 患者进行常规检查时，发现其双眼出现黄斑扁平伴眼底色素减退，并通过眼底照相、谱域光学相干断层扫描和光相干断层扫描血管造影进行了记录。
黄斑扁平伴眼底色素减退可能与 PWS 有关。实际上，PWS 和眼皮肤白化病都可能是由于 15 号染色体上相同基因组区域的缺失所致。本病例报告了一名 PWS 患者伴眼底色素减退，支持 PWS 和眼皮肤白化病之间存在遗传和临床重叠。
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