ArticleOrphanet journal of rare diseases2022
An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Uveal and retinal abnormalities in an Asian neurofibromatosis type 1 cohort: a cross-sectional study with age-stratified analysis.Eye and vision (London, England) · 2026Article
- Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis.Life (Basel, Switzerland) · 2026Review
- Key features of choroidal abnormalities in neurofibromatosis type 1, a commentary on "Histologic correlates of "choroidal abnormalities" in neurofibromatosis type 1 (NF1)".Acta neuropathologica · 2024Article
- Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1.Turkish journal of ophthalmology · 2024Article
- Visual Deficits and Diagnostic and Therapeutic Strategies for Neurofibromatosis Type 1: Bridging Science and Patient-Centered Care.Vision (Basel, Switzerland) · 2024Review
- Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry.Clinics (Sao Paulo, Brazil) · 2024Review
- Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. The CAs, identified with near-infrared reflectance, have been reported with a frequency of up to 100% in NF1, and have recently been added to the actual diagnostic criteria for NF1. The present Letter to the journal is intended to provide an update on features and clinical significance of CAs in NF1. Moreover, the relation with other ocular manifestations recently described in NF1 including hyperpigmented spots and retinal microvascular abnormalities is discussed.
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Registered trials
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