Ocular biometric parameters changes and choroidal vascular abnormalities in patients with neurofibromatosis type 1 evaluated by OCT-A.

PURPOSE: To analyze ocular biometric parameters alterations of the posterior pole and choroidal abnormalities in patients with neurofibromatosis type 1 (NF1) by adopting multimodal imaging, especially focusing on the role of novel diagnostic devices like swept-source optical coherence tomography angiography (SS-OCTA). METHODS: In this prospective, case-controlled study, patients with NF1 and age-matched control subjects were quantitatively analyzed by using multimodal imaging. All the subjects underwent confocal scanning laser ophthalmoscopy (SLO), SS-OCT and SS-OCTA examinations. RESULTS: SS-OCT analysis revealed a lower macular retinal nerve fiber layer (RNFL) thickness in patients with NF1 compared with those with suspected NF1 (95.0±15.9 vs 109.7±11.3 µm; P = 0.001) and control subjects (106.8±14.4 µm, P = 0.003). Retinal thickness was significantly lower in NF1 patients compared to those with suspected NF1 (280.7±23.0 vs 304.2±15.3 µm; P < 0.001) and control subjects (298.7±23.8 µm, P = 0.003). The mean vascular flow area of the SCP was significantly higher in patients with NF1 (42.6±2.2%) and suspected NF1 (43.1±2.5%) compared to control subjects (41.0±2.0%; respectively, P = 0.017 and P = 0.002). In the second choroidal layer, the flow area was significantly lower in patients with NF1 compared to control subjects (45.4±4.8 vs 49.0±4.0%,; P = 0.011). CONCLUSIONS: Retinal thicknesses alterations and choroidal nodules are described as ocular manifestations in patients with NF1. In addition, OCTA could represent an important novel advanced imaging technique, capable of detecting early altered retinal and choroidal vascular flow area in patients with NF1.

Biometric and refractive errors evaluation in patients with neurofibromatosis type 1.

PURPOSE: To analyze biometric changes and prevalence of refractive in patients with neurofibromatosis type 1 (NF1). METHODS: Retrospective, case-controlled study involving patients affected by NF1 and healthy control subjects. Data on biometric measurements such as axial length (AL), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), keratometry (K1 and K2) values, and white-to-white (WTW), obtained by use of optical low-coherence reflectometry on a Lenstar LS 900® (Haag-Streit AG, Switzerland) were collected and analyzed. Cycloplegic refractions were then performed. RESULTS: Overall, 166 eyes of 83 patients diagnosed with NF1 (mean age 21.6 ± 9.8) were enrolled and compared with 178 eyes of age-matched healthy subjects (mean age 22.6 ± 6.6). One hundred sixty-six (22.8%) and 33 of 178 (18.5%) eyes were myopic in NF1 patients and healthy subjects, respectively. The prevalence of hyperopia in the NF1 group was 12 of 166 (7.2%) whereas in the healthy control group was 14 of 178 (8.9%). Twenty-nine of 166 (17.4%) and 34 of 178 (19.1%) eyes presented astigmatism in NF1 and control group, respectively. These differences were not statistically significant (p-values > 0.05). Refractive errors such as myopia, hyperopia, and astigmatism were similar between the two groups. The difference of AL, CCT, ACD, LT, K values, and WTW were no statistically significant between the two groups (p-values > 0.05). CONCLUSION: Refractive errors and ocular biometric parameter seem not to be an addition findings of NF1.