INTRODUCTION
Neurofibromatosis (NF) is a relatively common genetic condition characterized by neuroectodermal tumours arising within the skin and organ systems, including the eyes, brain and peripheral nerves1,2 3-5. It is autosomal dominant in inheritance with almost complete penetrance and widely variable expressivity6,7. Neurofibromatosis is important in ophthalmology because of its propensity for ocular involvement with potentially vision-threatening complications 8-13. The manifestations and complications of NF are diverse and disease expression varies, even among members of the same family6. Although NF can present to virtually any specialty in medicine, ophthalmologists are almost always involved in the management of these patients at some stage of this life-long disease12,13. There are many categories of NF7 but the commonest are NF type 1 (NF 1) or classical NF, also known as Von Recklinghausen’s disease 1,14; NF type 2 (NF 2) known previously as central neurofibromatosis, characterized by bilateral acoustic neuroma, now preferentially called vestibular schwannoma 15-17 and NF type 3 (NF 3) otherwise called peripheral schwannomatosis 18,19 .
Recent advances in molecular biology and neuroimaging, as well as, the development of improved mouse models, have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raised the prospect of therapeutic intervention for this complex and distressing disease in the near future2,5.
Being a lifelong disorder, the burden shouldered by patients with neurofibromatosis (NF) can be very great, particularly in a resource poor environment 20-32. Consequently, this should facilitate the recognition of symptoms and signs, promoting early diagnosis and follow-up of these patients. A multidisciplinary approach to management is essential in enhancing the overall quality of life of individuals affected with neurofibromatosis and is strongly advocated for these patients.
This 10-year retrospective review (2010 - 2019) of the patterns of presentation and management of NF in Ibadan, Southwest, Nigeria gives an insight into the clinical and ophthalmic presentation, immediate problems, potential problems and future needs of NF patients, identifying strategies for addressing these issues, with a view to improving the prognosis and quality of life of these patients within a typical African setting.