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.