title: RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography.
abstract: OBJECTIVE
  To evaluate the prevalence, the vascular features, and the clinical diagnostic implication of retinal vascular abnormalities (RVAs) associated with neurofibromatosis Type 1 (NF1) in a large cohort of patients.
  
  
  METHODS
  Two hundred and ninety-four patients affected by NF1 were consecutively enrolled. The presence of RVAs was detected by means of infrared confocal scanning laser ophthalmoscopy images. Three hundred age- and race-matched healthy subjects were enrolled as a healthy control group. Fluorescein angiography, indocyanine green angiography, and optical coherence tomography angiography were also performed in patients with RVAs.
  
  
  RESULTS
  Retinal vascular abnormalities were detected in 18 patients with NF1 (6.1%) and in none of the healthy subjects. Retinal vascular abnormalities appeared in all cases as well-defined, small, tortuous retinal vessels with a spiral aspect, originating from small tributaries of retinal veins. The presence of RVAs did not correlate with the presence of other specific ocular or systemic NF1 features (P > 0.05). On optical coherence tomography angiography, RVAs appeared as an isolated tortuous vessel of the superficial vascular plexus in all cases, associated with localized anomalous crowded and congested capillary network of the deep vascular plexus in 75% of cases.
  
  
  CONCLUSIONS
  Retinal vascular abnormalities are present in a limited proportion of patients affected by NF1 and can be considered an additional distinctive sign of the disease.
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Parrozzani
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pilotto
authors.affiliation: Clinical Genetics Unit, Department of Women and Children Health, University of Padova, Padova, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Frizziero
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Leonardi
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Convento
authors.affiliation: Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Miglionico
authors.affiliation: Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Pulze
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.
authors.forename: Pierdavide
authors.initials: P
authors.lastname: Perrini
authors.affiliation: Clinical Genetics Unit, Department of Women and Children Health, University of Padova, Padova, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Trevisson
authors.affiliation: Clinical Genetics Unit, Department of Women and Children Health, University of Padova, Padova, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Cassina
authors.affiliation: Department of Ophthalmology, University of Padova, Padova, Italy.|Ocular Oncology and Toxicology Research Unit, G.B. Bietti Foundation, IRCCS, Roma, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Midena
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000473:pathology*; D009887:Ophthalmoscopy; D015995:Prevalence; D011446:Prospective Studies; D012164:Retinal Diseases / Q000453:epidemiology / Q000473:pathology*; D012171:Retinal Vessels / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods; D055815:Young Adult