Vitelliform Maculopathy

A middle-aged patient with a remote history of prostate cancer in remission presented as a referral for evaluation of retinal lesions. He denied any complaints initially. He was noted to have orangeish vitelliform lesions deposited around his vascular arcades. Workup for other malignancies at the time was negative. He returned 2 years later with worsened visual acuity and evolution of the lesions. Multimodal imaging demonstrated atypical vitelliform lesions with supranormal electroretinography and electooculography. Genetic testing revealed two intronic point mutations in Trpm1, which has been associated with congenital stationary night blindness, melanoma-associated retinopathy, paraneoplastic exudative polymorphous vitelliform maculopathy, and leopard spotting in Appaloosa horses.

Presentation Date: 04/13/2023

Issue Date: 04/21/2023