1. 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 th Euretina Congress

2. 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

3. 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)

4. 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

5. 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.

6. 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.