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Title	Ophthalmological findings in a serie of 20 Fabry patients : preliminary results
Abstract Nr.	P14

Purpose	Fabry disease is a rare X-linked lysosomal storage disorder caused by a-galactosidase A deficiency. Although sophisticated diagnostic methods exist, clinical screening still remains a major tool in diagnosing new patients. Some characteristic ophthalmological signs will be emphasized in this study.
Methods	20 patients diagnosed with Fabry disease were enrolled in the study: 13 males ( 33-48 years) and 7 females (10-70 years). All but one were receiving enzyme replacement therapy. Visual acuity, intraocular pressure measurement, slit-lamp examination and eye fundus were part of the systematic work-up.
Results	An abnormal cornea was seen in all patients: 13 patients had a cornea verticillata appearance, and 2 had a haze. The 2 abnormalities appeared more marked in women. The most severe involvement was observed in a young untreated female. This raises the hypothesis of a possible “wash-out” effect under ERT. 1 patient presented a haze that had been diagnosed on the basis of a cornea verticillata. 12 patients displayed cataract: 3 associated with subcapsular bullae, 4 of the verticil type and 3 of posterior subcapsular location. 2 patients had “pseudophakic” eyes. Some retinal vascular tortuosity, which were venous in 6 cases and arteriovenous in 5 others were observed in 11 patients. The youngest female did not present any abnormality of the fundus vessels.
Conclusion	All investigated patients had at least one of the classical ocular sign of Fabry disease. These are easily recognizable by standard examination. Cornea verticillata, a sign with a high diagnostic value, was observed in thirteen patients patients.

Author 1

Last name	COBUT
Initials	OC
Department	ISPPC
City	CHARLEROI

Author 2

Last name	DEPASSE
Initials	FD
Department	ERASME
City	BRUXELLES

Author 3

Last name	DEHOUT
Initials	FD
Department	ISPPC
City	CHARLEROI

Author 4

Last name	VAN MALDERGEM
Initials	LV
Department	IMTR
City	LOVERVAL

Author 5

Last name	VAUTHIER
Initials	LV
Department	ISPPC
City	CHARLEROI