Download Diapositiva 1 - Dott. Paolo Tortorella Oculista

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
examination
RE FA
eyes, the AS appeared fluorescent throughout all
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.