RESULTS
A total of 38 cases of neurofibromatosis were documented in records, during the 10-year period, of which 4 cases were excluded from analysis after reviewing their clinical case files. These four cases comprised 2 males and 2 females. Firstly, a 7-month-old female was excluded, based on clinical features of Sturge-weber syndrome associated with unilateral lid swelling from a huge capillary haemangioma, rather than a plexiform neurofibroma. Another 14-month-old female had café au laît skin patches but was excluded when a review of the clinical documentation showed a diagnosis of tuberous sclerosis rather than neurofibromatosis. The third patient excluded, was a 14-month-old male, with a large hypertrophic unilateral facial patch and bony dysplasia initially thought to represent neurofibromatosis, but later diagnosed as Proteus syndrome. Finally, a 58-year-old man documented to have NF1, was excluded for lack of documentation of the diagnostic criteria used and lack of documentation recording ophthalmic assessment or neuro-radiological investigation. The prevalence of NIH diagnostic criteria observed, in the remaining 34 cases, which were included in this study, are shown in Figure 1. All cases in this study had features consistent with NF1.
The 34 cases included in this study comprised 19 males (55.9%) and ages ranging from 18 months – 60 years, with a median age of 15 years, an interquartile range of 19.5 years and the most frequent age at presentation (or diagnosis) was 15 years. The male to female ratio was 1.3:1 (p= 0.35) with approximately 35.3% (12 patients) within the paediatric age group (14 years and below), according to our hospital policy. Presenting visual acuity ranged from Snellen acuity of 6/4 in the better eye to no light perception (NLP) in the worse eye. Although, only one patient presented with poor vision of hand motion (HM) in the better eye, up to a third of patients (33.3%) presented with poor vision < 6/60 in the affected eye. All patients were diagnosed with NF 1, based on the NIH diagnostic criteria.