Frequency of Choroidal Abnormalities in Pediatric Patients With Neurofibromatosis Type 1

ABSTRACT.Purpose: To investigate choroidal abnormalities in paediatric patients with neurofibromatosis type 1 (NF1) detected by near-infrared reflectance (NIR) retinography in order to evaluate diagnostic accuracy. Methods: Seventy-eight paediatric patients with NF1, diagnosed according to the National Institutes of Health (NIH) criteria, and 96 healthy control subjects matched for age were examined. Enrolled patients were under 16 years old. The presence of choroidal abnormalities was investigated by confocal scanning laser ophthalmoscopy. Main outcome measure was to evaluate diagnostic accuracy in paediatric patients compared with the NIH criteria. Results: Seventy-eight patients with NF1 (41 female, 37 male; mean age 8.1 AE 3.5 years) were compared with 96 healthy control subjects (42 female, 54 male; mean age 8 AE 3 years). Choroidal abnormalities were observed in 54 (69.2%) of the patients with NF1. As regards the fundus topographical distribution, choroidal abnormalities were more frequent at the posterior pole with a statistically significant correlation between patient age and the number of involved choroidal areas (Spearman r = 0.23; p < 0.04). No choroidal abnormalities were present in the control group. Detection accuracy of choroidal nodules was 70%. Conclusion: Choroidal abnormalities appearing as bright patchy regions detected by NIR imaging occurred very frequently in paediatric patients affected by NF1. The present study appears to show that NIR used to detect choroidal involvement allows for elevated diagnostic accuracy.

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“…As described by Goktas et al. () and Viola et al. (), choroidal nodules appear in healthy subjects as well, in 5% and 8%, respectively.…”

Section: Discussionsupporting

confidence: 55%

“…Moreover, Goktas et al. () observed choroidal abnormalities in 15 (78.9%) of 19 patients with NF1 and 1 (5%) of 20 control subjects.…”

Section: Introductionmentioning

confidence: 95%

Choroidal abnormalities in neurofibromatosis type 1 detected by near‐infrared reflectance imaging in paediatric population

Vagge

Camicione

Capris

et al. 2015

Acta Ophthalmologica

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“…This is comparable with previous studies in the literature with reported frequencies between 78.9% and 100% 7 8 13. No similar choroidal lesions were seen in the control subjects.…”

Section: Discussionsupporting

confidence: 92%

Morphologic and vasculature features of the choroid and associated choroid–retinal thickness alterations in neurofibromatosis type 1

et al. 2014

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“…Choroidal nodules were recently found to be very specific for NF1, with a diagnostic accuracy of 90% if more than one nodule is present [3]. In NF1 children, choroidal nodules are seen in 71% (<12 years) to 78% (<16 years) [3, 4]. Therefore, choroidal nodules have been proposed to be added to the clinical diagnostic criteria for NF1 [3].…”

Section: Introductionmentioning

confidence: 99%

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1

Cassiman

Casteels

Stalmans

et al. 2017

Case Rep Ophthalmol

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Purpose: To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA). Methods: Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J.J.) after pupillary dilation. A standard scan, centered over the macula measuring 6 × 6 mm and 3 × 3 mm was obtained according to the findings on standard color photography. Additional scans were obtained in the zones with microvascular abnormalities. The segmentation provided by the machine software was used. Results: Corkscrew retinal vessels were observed in association with “placoid”-type choroidal nodules as shown by near-infrared reflectance imaging. In all cases, multiple lesions were found. They were second- or third-order tortuous vessels originating from the superior or inferior temporal veins. OCTA demonstrated that the tortuous venules were located in the superficial capillary plexus, and no abnormalities were found in the deep capillary plexus. Discussion: Corkscrew retinal vessels are part of a spectrum of retinal microvascular alterations seen in association, sometimes overlying choroidal nodules in patients with NF1 and are visualized in the superficial capillary plexus on OCTA. We demonstrated with OCTA that they are not associated with flow loss or ischemia in the superficial and deep capillary plexus. The link between the underlying nodule remains unclear. Since neovascularization was described in choroidal ganglioneuroma, we hypothesize that corresponding secretory substances from Schwann cells, ganglion cells, or melanocytes in choroidal nodules might alter the retinal vasculature. Conclusion: We report on 3 cases of NF1 with choroidal nodules in association with retinal microvascular changes imaged with OCTA. OCTA demonstrated preservation of the blood flow in the deep and superficial capillary plexus of the retina. We hypothesize that angiogenic factors secreted by the underlying choroidal nodules could have an effect on the retinal vasculature. Further immunohistological studies in NF1 patients with choroidal nodules to detect angiogenic factors (such as VEGF) are necessary to confirm this hypothesis.

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Frequency of Choroidal Abnormalities in Pediatric Patients With Neurofibromatosis Type 1

Abstract: Choroidal abnormalities are frequent in neurofibromatosis type 1. Choroidal abnormalities detected by infrared reflectance imaging with optical coherence tomography can be used to diagnose neurofibromatosis type 1.

Cited by 28 publications

References 16 publications

Choroidal abnormalities in neurofibromatosis type 1 detected by near‐infrared reflectance imaging in paediatric population

Choroidal abnormalities in neurofibromatosis type 1 detected by near‐infrared reflectance imaging in paediatric population

Morphologic and vasculature features of the choroid and associated choroid–retinal thickness alterations in neurofibromatosis type 1

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1

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