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Retinal microvascular abnormalities in neurofibromatosis type 1
  1. Antonietta Moramarco1,
  2. Emanuele Miraglia2,
  3. Fabiana Mallone1,
  4. Vincenzo Roberti2,
  5. Chiara Iacovino2,
  6. Alice Bruscolini1,
  7. Rosalia Giustolisi1,3,
  8. Sandra Giustini2,4
  1. 1 Department of Organ of Sense, Sapienza University of Rome, Rome, Italy
  2. 2 Department of Dermatology, Sapienza University of Rome, Rome, Italy
  3. 3 Department of Ophthalmology, Sapienza University of Rome, Rome, Italy
  4. 4 Department of Clinical Dermatology, University of Rome "Sapienza", Rome, Italy
  1. Correspondence to Dr Antonietta Moramarco, Department of Organ of Sense, Sapienza University of Rome, Rome 00161, Italy; antonietta.moramarco{at}


Purpose The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information.

Methods This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1.5 T MRI scan of the brain to assess the presence of optic nerve gliomas. To evaluate the predictability and the diagnostic accuracy of our identified retinal microvascular arrangements, we calculated the diagnostic indicators for each pattern of pathology, with corresponding 95% CI. In addition, we evaluated the association between the microvascular arrangements and each National Institutes of Health diagnostic criteria.

Results Microvascular abnormalities were detected in 105 of 334 NF1 patients (31.4%), the simple vascular tortuosity was recognised in 78 of 105 cases (74.3%) and whether the corkscrew pattern and the moyamoya-like type showed a frequency of 42.8% (45 of 105 cases) and 15.2% (16 of 105 cases), respectively. We found a statistically significant correlation between the presence of retinal microvascular abnormalities and the patient age (p=0.02) and between the simple vascular tortuosity, the patient age and the presence of neurofibromas (p=0.002 and p=0.05, respectively).

Conclusions We identified microvascular alterations in 31.4% of patients and a statistically significant association with patient age. Moreover, the most frequent type of microvascular alterations, the simple vascular tortuosity, resulted positively associated with age and with the presence of neurofibromas.

  • microvascular abnormalities
  • NF1
  • retina
  • ophthalmoscopy
  • moya-moya disease

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  • Contributors AM conceived of the study. FM, EM, CI, AB and SG contributed to the acquisition, analysis and interpretation of data for the work, and VR critically revised it. RG and AB conducted the primary statistical analysis and evaluated the accuracy and integrity of any part of the work. All authors contributed to refinement of the study protocol and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Ethics approval All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee of Sapienza University of Rome and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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