Abstract
BackgroundPrader–Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15. Ophthalmic manifestations of PWS include strabismus, amblyopia, nystagmus, hypopigmentation of the iris and choroid, diabetic retinopathy, cataract and congenital ectropion uvea. An overlap between PWS and oculocutaneous albinism (OCA) has long been recognized and attributed to deletion of OCA2 gene located in PWS critical region (PWCR).Case reportA 30-year-old male patient with PWS presented with vision loss in his left eye. His right eye had normal visual acuity. Multimodal imaging revealed absence of a foveal depression and extremely reduced diameter of the foveal avascular zone in the right eye and an inactive type 2 macular neovascular lesion in the left eye.ConclusionsWe report a presumed association of fovea plana and choroidal neovascularization with PWS. The use of multimodal imaging revealed novel findings in a PWS patient that might enrich our current understanding of the overlap between PWS and OCA.
Highlights
Prader–Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15
The use of multimodal imaging revealed novel findings in a PWS patient that might enrich our current understanding of the overlap between PWS and oculocutaneous albinism (OCA)
Prader–Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of the paternallyinherited PWS critical region (PWCR) of chromosome 15q11.2-q13
Summary
We report a presumed association of fovea plana and choroidal neovascularization with PWS.
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