Roth spots in a Rendu-Osler-Weber syndrome.
Thomas Ferreira De MouraAmélie ServettazAdrien HenryCarl ArndtAlexandre DenoyerPublished in: Retinal cases & brief reports (2023)
Hereditary Hemorrhagic Telangiectasia (HTT) also known as Rendu-Osler-Weber syndrome is a rare autosomal dominant disease which reveals mostly with epistaxis and cutaneous telangiectasias. Our clinical case reports Roth spots in the context of HTT associated with juvenile polyposis syndrome. SMAD-4 mutation may explain the presence of a carotid-ophthalmic aneurysm which is not a lesion usually found in HTT.