Aim- To describe the pattern of clinical presentation of patients with neurofibromatosis in a homogeneous black African population with emphasis on ophthalmological presentation in a multidisciplinary management setting. Methods- Ophthalmology clinic records from the Department of Ophthalmology and database of the Department of Pathology, both of University College Hopsital, Ibadan, Nigeria were reviewed for cases of neurofibromatosis over a 10-year period (Jan 2010 and Dec 2019). Relevant demographic, clinical information, management, complications and patient follow up were extracted from the records and entered into a spreadsheet and analysed. Results - The 34 cases included in this study comprised 19 males (55.9%) and age ranged from 18 months – 60 years, with a median age of 15 years. The male to female ratio was 1.3:1 with approximately 35.3% (12 patients) in the paediatric age group. The most frequent reason for consultation was unilateral progressive painless lid swelling (plexiform neurofibroma) often associated with ptosis. There was a positive family history of neurofibromatosis in 9 out of 32 cases (28.1%). Café au laît macules were observed in 22 out of 25 (88%) of cases. Typical neurofibromas were present in 84.8% of the patients. There was no significant difference in prevalence of plexiform neurofibromas with age (p= 0.05) or sex (p= 0.79). Bone and joint abnormalities was present in 17.6% of the patients. Ophthalmic examination showed conjunctiva changes in 3 cases, prominent cornea nerves in 2 cases. Iris lisch nodules was present in 75.9% of cases that had documentation, cataract in 2 cases and optic atrophy in 6cases.Three patients had ophthalmic pathway gliomas. Patients were managed by multidisciplinary teams depending on their needs. Conclusion- Multidisciplinary team management is advocated because of the multi-system disorders these patient have and the need for holistic, patient centred care that is of good quality, and sustainable.
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