ANGIOID STREAKS AND OPTIC DISC DRUSEN IN A YOUNG GIRL WITH PSEUDOXANTHOMA ELASTICUM L. Iannetti, M.P Pirraglia, A. Abbouda, P. Tortorella, P. Pivetti-Pezzi “Sapienza” University of Rome Department of Ophthalmology Ocular Immunovirology Service Paris 2010 10th Euretina Congress

INTRODUCTION Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Bruch's membrane in the eye Clinically PXE is characterized by: soft yellow striae on the neck, axillae and abdomen and sometimes on the elbows and knees angioid streaks, peau d'orange fundus, and choroidal neovascularisations in the posterior segment of the eye peripheral and coronary arterial occlusive disease and gastrointestinal bleedings We describe a case of 19 years-old girl affected by PXE complaining of blurred vision in the left eye from one month. The proband’s father was affected by keratoconus and the proband’s brother presented skin lesion like PXE

CASE REPORT On the first examination best corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye. Anterior segment examination, pupil responses and intraocular pressures were normal in both eyes. Ophthalmoscopic examination of the both eyes revealed optic disc drusen and angioid streaks (AS). In left eye angioid streaks involved macular area. RE Fundus oculi LE Fundus oculi The patient was subjected to: Fluorescein Angiography (FA) Indocyanine Green Angiography (ICG) Fundus Autofluorescence (FAF) Optical Coherence Tomography (OCT) Visual field examination with the manual Goldmann perimeter Visual Evoked Potentials (VEP) and Electroretinogram (ERG)

CASE REPORT FA identified AS in both eyes, the AS appeared fluorescent throughout all examination RE FA LE FA ICG identified AS in both eyes and the streaks appeared hypofluorescent throughout all examination. Choroidal Neovascolarization (CNV) was not observed

CASE REPORT OCT showed in the areas of AS irregular reflectivity of Retinal pigment epithelium (RPE) and masking effect. These were thought to be calcium deposits. FAF showed areas of increased AF in optic disc confirming the presence of drusen. VEP and ERG were normal.

COMMENTS The prevalence of AS is generally considered to be low in the general population, especially among young people. Association between AS and optic disc drusen is rare too. As for as we know this is a rare case of association of optic disc drusen and early AS involving macula in young patient with familiar PXE. In this case of PXE the extensive alterations and pathologic changes of the Bruch’s membrane-RPE complex play a significant role in the visual loss evolution. FINANCIAL DISCLOSURE: The Authors have no financial interest in the subject matter. No money from any mentioned company was received.