Lisch and the importance of his nodules

Abstract

Neurofibromatosis 1 is the commonest neurocutaneous autosomal dominant disorder with full penetrance, although expression may not be complete by the age of five years. Lisch nodules, however, are predominantly visible in children usually after the age of six years. Therefore, it is important to appreciate that their absence before this age does not pre-empt the diagnosis. A child being treated for hypertension of unknown aetiology with cafe au lait lesions presented to the ophthalmologist with blurred vision. Clinical examination revealed Lisch nodules which confirmed the suspicion of neurofibromatosis 1 as per National Institutes of Health criteria. The aim of this report is to highlight the importance of regular ophthalmic screening, both in suspected and confirmed cases, as these patients have long-term sequelae.