Abstract
Purpose :
This study reports on longitudinal clinical characteristics of patients with neurofibromatosis type 1 (NF1) in a follow-up period of mean 8 years in a cohort of children from 0-14 years (median 1,5 years).
Methods :
This study included children diagnosed with neurofibromatosis type 1, clinical characteristics were evaluated. The outcomes were evaluated at the first visit and the last visit of the follow-up period: visual acuity (VA) was tested monocular or binocular (including different tests as Cardiff, Lea, Numbers or Snellen), characteristics like the presence of optic nerve abnormalities (in OCT, MRI or fundoscopy), lisch nodules, cafe au lait stains and genetic verification were obtained.
Results :
A total of 86 children (170 eyes) were included, followed for a mean of 8 years (range, 2-19 years). At the first visit VA was measured with Cardiff in 42%, in 32% with Lea and in 13% with Numbers. 24% patients showed a presence of optic nerve abnormalities, in 48% patients genetic verification was positive, 32% of the patients had cafe au lait stains and 45% had lisch nodules in the eye examination. Furthermore in 39% of the cases optic nerve glioma was detected during the follow-up. Further analysis for the will be obtained using a linear mixed model.
Conclusions :
Optic nerve glioma is a common finding in patients with NF1 and close follow-up is recommended, including OCT imaging and MRI imaging of the optic nerve for early diagnosis and treatment.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.