Observational studyGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2020
Ocular surface involvement in patients with neurofibromatosis type 1 syndrome.
Observational study in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Corneal Confocal Microscopy to Diagnose Peripheral Neuropathy: A Systematic Review and Meta-Analysis.European journal of neurology · 2025Pooled it
- Case Report: Twisted subbasal corneal nerve fibers in a case of neurofibromatosis type 1.Frontiers in neuroscience · 2026Article
- Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis.Pain reports · 2025Article
- Cornea Oculomics: A Clinical Blueprint for Extending Corneal Diagnostics and Artificial Intelligence in Systemic Health Insights.Diagnostics (Basel, Switzerland) · 2025Review
- Trackins (Trk-Targeting Drugs): A Novel Therapy for Different Diseases.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Secondary childhood glaucoma in neurofibromatosis type 1: an unusual corneal leukoma case report.Frontiers in oncology · 2024Article
- Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.BMC ophthalmology · 2023Article
- Psycho-Cognitive Profile and NGF and BDNF Levels in Tears and Serum: A Pilot Study in Patients with Graves' Disease.International journal of molecular sciences · 2023Article
- Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients.Orphanet journal of rare diseases · 2022Article
- An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.Orphanet journal of rare diseases · 2022Article
- Neuroretinal dysfunction in patients affected by neurofibromatosis type 1.International journal of ophthalmology · 2022Article
- Corneal endothelial cells and central corneal thickness in patients with neurofibromatosis type 1.Indian journal of ophthalmology · 2021Article
- Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies.Eye and brain · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1).
methodsTwenty-eight patients with NF1 and 14 healthy subjects were included in this study. All participants underwent a medical history collection, a complete ophthalmological examination including slit lamp exam and assessment of best-corrected visual acuity (BCVA), corneal sensitivity, and lacrimal function (Schirmer test and fluorescein tear break-up time test). Corneal nerves' morphology and endothelial cells density were evaluated by in vivo corneal confocal microscopy (IVCM). Tear and conjunctiva epithelium samples were collected to evaluate nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) tear levels and conjunctival expression of their receptors TrkA and p75NTR.
resultsPatients with NF1 showed a significant decrease of FTBUT when compared with healthy subjects (p < 0.001). Corneal sensitivity was ≤ 50 mm in 46% of NF1 patients. IVCM showed a significant increase of corneal nerve branching and of corneal endothelial cells density. No significant difference was observed between the two groups on NGF and BDNF tear levels and conjunctival expression of their receptors.
conclusionThis study demonstrated the presence of ocular surface changes in NF-1 patients including decrease of tear stability and of corneal sensitivity. Patients with NF1 also showed changes of corneal endothelial cells' density.
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Registered trials
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