In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients

Parrozzani, Raffaele; Clementi, Maurizio; Frizziero, Luisa; Miglionico, Giacomo; Perrini, Pierdavide; Cavarzeran, Fabiano; Kotsafti, Olympia; Comacchio, Francesco; Trevisson, Eva; Convento, Enrica; Fusetti, Stefano; Midena, Edoardo

doi:10.1167/iovs.14-16053

Cited by 47 publications

(54 citation statements)

References 13 publications

(21 reference statements)

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“…Overall, the results and the conclusions of Parrozzani et al 1 are in accordance with our study. Therefore, they contribute to the evidence that the evaluation of choroidal abnormalities identified by NIR imaging should represent a new diagnostic sign in pediatric patients with NF1.…”

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confidence: 93%

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Choroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1)

Vagge

Capris

Traverso

2016

Invest. Ophthalmol. Vis. Sci.

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We read with great interest the recent article by Parrozzani et al.1 regarding the choroidal abnormalities related to neurofibromatosis type 1 (NF1) in pediatric patients. The authors conducted a prospective, masked, cross-sectional study looking at feasibility and the diagnostic performance evaluation of NF1-related choroidal abnormalities. This has important clinical implications because the National Institutes of Health (NIH) criteria for NF1 2,3 do not include choroidal abnormalities for diagnosis of NF1.This study is of particular interest to us given the possibility of comparing the results with those of our previous study, 4 which was not discussed in this article. In brief, we compared 78 pediatric patients with NF1 (age range, 2.8-16.4) and 96 healthy control subjects matched for age (age range, 2.0-15.5). Choroidal nodules were observed in 54 patients (69.2%) with NF1. No choroidal abnormalities were seen in the control group. However, we reported 7.8% of the patients with suspected NF1 (<2 criteria defined by NIH for diagnosis of NF1) to have choroidal abnormalities as well. Furthermore, we observed that the frequency of Lisch nodules was 48.7%. Similar results were found by Viola et al. 5 In fact, they showed that the frequency of choroidal nodules in the pediatric NF1 patients was 71%, higher than the 43% of Lisch nodules detected in the same group.We agree that choroidal abnormalities are easily assessed in near-infrared imaging (NIR). In our experience choroidal nodules detected by NIR are often less ambiguous to detect than Lisch nodules by slit-lamp examination. In fact, in our study, we observed three subjects with choroidal abnormalities in the healthy group, but these did not present the typical features of the choroidal nodules shown in neurofibromatosis patients. Moreover, optical coherence tomography and specifically NIR are noninvasive, noncontact, quick, and highresolution methods applicable in children as well.Overall, the results and the conclusions of Parrozzani et al. 1 are in accordance with our study. Therefore, they contribute to the evidence that the evaluation of choroidal abnormalities identified by NIR imaging should represent a new diagnostic sign in pediatric patients with NF1.

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supporting

confidence: 93%

“…We read with great interest the recent article by Parrozzani et al 1 regarding the choroidal abnormalities related to neurofibromatosis type 1 (NF1) in pediatric patients. The authors conducted a prospective, masked, cross-sectional study looking at feasibility and the diagnostic performance evaluation of NF1-related choroidal abnormalities.…”

mentioning

confidence: 99%

Choroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1)

Vagge

Capris

Traverso

2016

Invest. Ophthalmol. Vis. Sci.

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“…The largest pediatric study cohort was published by Parrozzani et al; 140 pediatric NF1 patients, 59 NF1 suspected patients and 42 healthy subjects were included. A sensitivity of 0.6 and a specificity of 0.97 were found . During the same period, Vagge et al reported nodules in 69.2% of 78 patients (age 8.1 years ± 3 years) .…”

Section: Discussionmentioning

confidence: 99%

“…All of our patients could participate in the study. Reported feasibility of this exam by Parrozani et al was 82%, for a pediatric age group 0–16 years old . With the upcoming enhanced eye tracking systems and advanced technology, data acquisition becomes fast (<2 s).…”

Section: Discussionmentioning

confidence: 99%

“…In the control group, after exclusion of choroidal nevi, atrophic areas and artifacts, maximum one nodule was detected and this only in 0.01% of the healthy population (combined results: 1/159) (4,5,9). A new debate emerged discussing the diagnostic importance of choroidal nodules in the diagnostic criteria of NF1 to include in the National Institutes of Health (NIH) diagnostic criteria (10) as a new diagnostic criterion for NF1 (4,9,(11)(12)(13).…”

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confidence: 99%

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Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool?

et al. 2016

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The best known café-au-lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café-au-lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with CALMs as a candidate tool for a more efficient diagnosis. Thirty-four patients with NF1 (14 with a truncating mutation, 14 with a non-truncating mutation and 6 with unknown mutation) and 11 patients with LS. All patients underwent an ophthalmological examination. Infrared images were performed. Choroidal nodules were diagnosed in 65% of the NF1 group. About 71% of NF1 patients with a truncating mutation and 50% of patients with a non-truncating mutation were found to have nodules. Choroidal nodules were seen in 18% of the LS patients, never more than one nodule/eye was detected in this group. Choroidal nodules are more abundantly present in NF1 genotypes with truncating mutations. In contrast, the number of choroidal nodules in LS is comparable with their presence in healthy individuals. Especially at an early age, when the clinical picture is incomplete, the detection of choroidal nodules is of diagnostic value, and helps in an appropriate genetic counselling and follow-up. These results support the suggestion to include choroidal nodules to the diagnostic criteria for NF1.

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Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

Farrelly

Stevenson

2022

American J of Med Genetics Pt A

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Neurofibromatosis type 1 (NF1) has historically been diagnosed clinically based on the NIH Consensus Conference diagnostic criteria. The molecular and clinical knowledge of NF1 has subsequently improved, and an international group of experts published revised diagnostic criteria in 2021, incorporating new diagnostic criteria such as pathogenic variants in NF1. This study aimed to investigate the impact of these new diagnostic criteria on time to diagnosis (TTD) of NF1. A retrospective chart review of individuals evaluated for a diagnosis of NF1 at the Medical Genetics Clinic at Stanford Children's Health was performed. The TTD was determined by calculating the days between their first visit with a medical geneticist for NF1 and the date they would have received a diagnosis based on the previous NF1 diagnostic criteria and the 2021 updated diagnostic criteria. The revised diagnostic criteria for NF1 decreased TTD. The mean difference in TTD was 113 days shorter for the new criteria (p-value = 1.306x À05). This study highlights that the revised 2021 NF1 diagnostic criteria can decrease the TTD. The addition of a heterozygous pathogenic variant in NF1 as a criterion was the change that decreased TTD.

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In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients

Abstract: Neurofibromatosis type 1-related choroidal abnormalities represent a new diagnostic sign in NF1 children. The main advantage of this sign seems the theoretical possibility to anticipate NF1 diagnosis, whereas the main obstacle is the cooperation required by very young patients.

Cited by 47 publications

References 13 publications

Choroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1)

Choroidal Abnormalities Detected by Near-Infrared Imaging (NIR) in Pediatric Patients With Neurofibromatosis Type 1 (NF1)

Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool?

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

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