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

Touzé, Romain; Manassero, Anthony; Brémond‐Gignac, Dominique; Robert, Matthieu P.

doi:10.1111/ceo.13936

Cited by 3 publications

(4 citation statements)

References 6 publications

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“…In a recent study, Chilibeck et al observed a progression in the number and size of CAs in 14 out of 40 NF1 paediatric patients evaluated longitudinally, with the earliest age progression at 4 years and the oldest at 16 years of age [27]. Similar results were presented by the group of Touzé et al in a large paediatric NF1 population, observing maximal CA progression between the age of 8 and 12 years [26]. To avoid bias due to the growing process of the eye, Cosmo et al assessed CA dimensions in a large cohort of NF1-affected children by normalising them for the optic disc size, demonstrating a significant increase over time [28].…”

Section: Choroidal Abnormalities (Cas) In Neurofibromatosis Type 1 (Nf1)supporting

confidence: 66%

“…These observations suggest that the presence of CAs on NIR imaging may be of higher diagnostic significance than detection of iris Lisch nodules and support the inclusion of both CAs and iris Lisch nodules in the revised diagnostic criteria for NF1. Also, it was reported that CAs grow in number and surface with age, with a maximum increase reached during puberty [14,20,21,25,26]. In a recent study, Chilibeck et al observed a progression in the number and size of CAs in 14 out of 40 NF1 paediatric patients evaluated longitudinally, with the earliest age progression at 4 years and the oldest at 16 years of age [27].…”

Section: Choroidal Abnormalities (Cas) In Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 96%

“…To avoid bias due to the growing process of the eye, Cosmo et al assessed CA dimensions in a large cohort of NF1-affected children by normalising them for the optic disc size, demonstrating a significant increase over time [28]. Interestingly, Touzé et al observed that the natural history of CAs differed from café-au-lait macules and OPGs, these progressing until the age of 10-12 years, while that of CAs rather resembled that of neurofibromas and iris Lisch nodules, which typically increase in number and size during puberty [26,29]. This is not surprising given the same embryological derivation and histopathological features of CAs, neurofibromas and iris Lisch nodules.…”

Section: Choroidal Abnormalities (Cas) In Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 99%

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Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1

Mallone,

Alisi,

Lucchino

et al. 2023

IJMS

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Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies.

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Section: Choroidal Abnormalities (Cas) In Neurofibromatosis Type 1 (Nf1)supporting

confidence: 66%

Section: Choroidal Abnormalities (Cas) In Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 96%

Section: Choroidal Abnormalities (Cas) In Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 99%

See 1 more Smart Citation

Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1

Mallone,

Alisi,

Lucchino

et al. 2023

IJMS

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“…The choice of including a young population of patients including children resulted from the study design with two subgroups of patients with NF1, considering that choroidal abnormalities appear over time and are largely present in NF1 adult populations. 19 The group of patients with NF1 was subdivided into two subgroups, according to the presence of infrared hyperreflective choroidal abnormalities: 10 patients with choroidal abnormalities and 10 patients without choroidal abnormalities. Controls were 10 healthy patients, free from retinal or choroidal disorders and matched for age with patients from the NF1 group.…”

Section: Methodsmentioning

confidence: 99%

Function of the Retinal Pigment Epithelium in Patients With Neurofibromatosis Type 1

Touzé

Abitbol

Brémond‐Gignac

et al. 2022

Invest. Ophthalmol. Vis. Sci.

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Purpose Retinal and choroidal abnormalities in neurofibromatosis type 1 (NF1) remain poorly studied. It has been reported, however, that the function of the retinal pigment epithelium (RPE) in NF1 was abnormal, with a supra-normal Arden ratio of the electro-oculogram (EOG). This study aims to evaluate the function of the RPE, using EOG, first in patients with NF1 compared to controls and second in patients with NF1 with choroidal abnormalities compared to patients with NF1 without choroidal abnormalities. Methods This prospective case-control study included 20 patients with NF1 (10 patients with choroidal abnormalities and 10 patients without) and 10 healthy patients, matched for age. A complete ophthalmologic assessment with multimodal imaging, an EOG, and a full-field electroretinogram were performed for each included patient. The main outcome measured was the EOG light peak (LP)/dark trough (DT) ratio. Results The LP/DT ratio was 3.02 ± 0.52 in patients with NF1 and 2.63 ± 0.31 in controls ( P = 0.02). DT values were significantly lower in patients with NF1 than in controls (240 vs. 325 µV, P = 0.02), while light peak values were not significantly different ( P = 0.26). No difference was found for peak latencies. No significant correlation between the surface and number of choroidal abnormalities and EOG parameters was demonstrated. Conclusions This study confirms the dysfunction of the RPE in patients with NF1, involving a lower DT and a corresponding higher LP/DT ratio. We hypothesize that this pattern may be due to a dysregulation of the melanocytogenesis, inducing a disruption in Ca2 + ion flux and an abnormal polarization of the RPE.

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Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study

Cosmo

Frizziero

Miglionico

et al. 2022

Cancers

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The purpose of this study was to assess the long-term natural history of choroidal abnormalities (CAs) in a large pediatric neurofibromatosis type 1 (NF1) population, quantifying their progression in number and dimensions. Pediatric patients (<16 years old) affected by NF1 with a minimum follow-up of 3 years with at least one CA in one eye were consecutively recruited. Near-infrared (NIR) imaging was performed to identify CAs, which were quantified in number and size. The CAs area and perimeter were normalized for the optic disc dimensions to avoid possible bias related to the growing process of the eye. Ninety-nine eyes of 53 patients were evaluated. The CAs number, area and perimeter significantly increased during follow-up (p < 0.0001 for each parameter). The patient age at baseline was inversely correlated with the CAs number over time (coefficient = −0.1313, p = 0.0068), while no correlation was found between the patient age and CAs progression in size. In conclusion, we provide evidence that, in NF1 pediatric patients, CAs change over time, increasing both in number and dimensions, independently from the physiological growth of the eye. While the increase of the CAs number occurs particularly at an earlier age, the increase in the CAs dimensions is a slow process that remains constant during childhood.

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

Cited by 3 publications

References 6 publications

Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1

Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1

Function of the Retinal Pigment Epithelium in Patients With Neurofibromatosis Type 1

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study

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