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This abstract is assigned to session Poster session

Title	Clinical significance of unilateral Lisch nodules
Abstract Nr.	P013

Purpose	Bilateral Lisch nodules are highly characteristic for neurofibromatosis 1(NF1). We wanted to study the clinical significance of unilateral Lisch nodules.
Methods	Retrospective study of the clinical files of 59 patients who underwent genetic counseling for neurofibromatosis and were seen in the department of ophthalmology.
Results	Three cases of unilateral Lisch nodules were observed. One case had unilateral Lisch nodules without any features of NF1. In 2 cases segmental neurofibromatosis was diagnosed. One child with NF1 initially presented unilateral Lisch nodules but developed bilateral Lisch nodules during follow-up. Of the 35 NF1 patients 28 ultimately presented bilateral Lisch nodules, 7 patients (5 less than 6 years old) did not demonstrate the nodules. No Lisch nodules were detected in the 2 cases of NF 2, in 4 cases where the diagnosis of NF1 remained doubtfull and in 15 patients with negative screening.
Conclusion	Because isolated unilateral Lisch nodules are very rare, clinical examination and history for NF1 are necessary to rule out segmental neurofibromatosis.

Author 1

Last name	CEUTERICK
Initials	SDMM
Department	University Hospital Antwerp, Department of Ophthalmology
City	Edegem

Author 2

Last name	Smets
Initials	RME
Department	University Hospital Antwerp, Department of Ophthalmology
City	Edegem

Author 3

Last name	van den Ende
Initials	JJ
Department	University Hospital Antwerp, Department of Medical Genetics
City	Edegem