The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

“…However, a few study results are different. 8 , 33 Parrozzani et al 8 reported a similar prevalence for CAs (60.5%; n = 129) and LNs (62.5%; n = 119). At the end of a 6-year prospective study of predominantly pediatric cohort, Chilibeck et al 33 reported a lower prevalence of CAs (70%) than LNs (80%); further, at the final exam, patients ≤ 5 years of age had LNs more frequently than CAs (28.8% vs. 15%).…”

Long‐term follow‐up of choroidal abnormalities in children with neurofibromatosis type 1

“…2,3 In a recent study, Chilibeck et al reported a progression in size and number of choroidal abnormalities in 26 eyes from 14 children. 4 The purpose of this study was to assess and quantify the evolution of choroidal abnormalities in a large population of children with NF1.…”

“…Among the 166 patient files from our database, 141, including 75 girls (53.2%), were studied after the exclusion of files with no available or poor-quality imaging. The median age at first imaging was 8.6 [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] years; the prevalence of choroidal abnormalities was 68.8% (97/141) with a mean number of areas of 5.2 (±4.3) with a total surface of 7.3 (±9.4) mm 2 by eye. Using a linear mixed model, no clinical finding was associated with the presence of choroidal abnormalities.…”

“…It confirms on a large series what previous cross-sectional studies had suggested and recently shown. [2][3][4] This natural history differs from café-au-lait macules, which are present from birth, increase with age over childhood, before decreasing and fading progressively 5 ; it also differs from unidentified bright object (UBO), which increase during the first years of life and decrease after age 8-10. 6 It resembles the history of two other hallmarks of NF1: cutaneous neurofibromas, which increase in number and volume during puberty and also during pregnancy in females, 5 and Lisch nodules, which exhibit a parallel evolution and are also likely to represent actual neurofibromas.…”

“…However, glaucomatous damage may occur due to the sudden volume expansion causing acute elevation in intraocular pressure (IOP). [1][2][3] Injection technique has been shown to influence the degree of acute IOP elevation, 4,5 although speed of intravitreal injection has not been studied in a randomised controlled trial. We conducted a cross-over randomised clinical trial assessing the impact of a fast (≤1 s) versus slow (3-4 s) intravitreal injection of 0.5 mg in 0.05 ml Lucentis ® (ranibizumab) for neovascular age-related macular degeneration on acute post-injection IOP.…”