Abstract
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). 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. 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). 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.
Highlights
Neurofibromatosis type 1 (NF1), known as von Recklinghausen’s disease, is one of the most frequent autosomal dominant disorders, showing an incidence of 1 out of 2500–3000 births [1]
The mean vascular flow area of the superficial capillary plexus (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)
Retinal thicknesses alterations and choroidal nodules are described as ocular manifestations in patients with NF1
Summary
Neurofibromatosis type 1 (NF1), known as von Recklinghausen’s disease, is one of the most frequent autosomal dominant disorders, showing an incidence of 1 out of 2500–3000 births [1]. Lisch nodules represent the most common ocular manifestation of the disease, several other ocular conditions such as optic gliomas, eyelid neurofibromas and cafe-au-lait spots, choroidal nevi, choroidal nodules and congenital glaucoma have been described in association with NF1 [6]. In this regard, it has been shown by near-infrared reflectance (NIR) imaging that choroidal abnormalities may occur in 100% of the patients with NF1 [7]. Undetectable by performing normal ophthalmological examination and fluorescein angiography (FA), choroidal nodules may be observed with indocyanine green angiography (ICGA); because of the invasive nature of this latter advanced imaging technique, this should not be considered as a first line strategy like NIR in detecting choroidal abnormalities [9]
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