FOVEA PLANA AND FUNDUS HYPOPIGMENTATION IN PRADER-WILLI SYNDROME.

Autor:	de Laage de Meux P; Ophthalmology Center for Imaging and Laser, Paris, France.; Department of Ophthalmology, Intercity Hospital and University Paris Est, Creteil, France., Mosbah H; Department of Nutrition and Rare Diseases Referral Center PRADORT, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne University, Boulevard de L'Hôpital, Paris Cedex, France; and., Cotton-Viard A; Ophthalmology Unit, Courbevoie, France., Cohen SY; Ophthalmology Center for Imaging and Laser, Paris, France.; Department of Ophthalmology, Intercity Hospital and University Paris Est, Creteil, France.
Jazyk:	angličtina
Zdroj:	Retinal cases & brief reports [Retin Cases Brief Rep] 2024 Sep 01; Vol. 18 (5), pp. 647-650.
DOI:	10.1097/ICB.0000000000001441
Abstrakt:	Background/purpose: To report a case of fovea plana with fundus hypopigmentation in a patient with Prader-Willi syndrome (PWS). Methods: Case report. Results: 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. Conclusion: 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.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu