Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Dec 1;41(12):2589-2595.
doi: 10.1097/IAE.0000000000003234.

RETINAL VASCULAR ABNORMALITIES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1

Romain Touzé  1 , Marc M Abitbol  1   2 , Dominique Bremond-Gignac  1   2 , Matthieu P Robert  1   3
Affiliations

RETINAL VASCULAR ABNORMALITIES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1

Romain Touzé et al. Retina. .

Abstract

Purpose: Retinal vascular abnormalities (RVAs) have been recently described in patients with neurofibromatosis Type 1 (NF1) as vascular tortuosity, best visible on infrared imaging. This study assessed clinical RVA's characteristics in a large series of children with NF1.

Methods: This retrospective observational study was conducted in children (0-18 years) with an NF1 diagnosis. Using near-infrared imaging, RVAs were classified according to the nature of vessels involvement and their degree of tortuosity.

Results: Retinal imaging from 140 children, with a median age of 8.8 years (1.5-18), was included; 52 patients (37.1%) (81 eyes) exhibited RVAs. These RVAs comprised 96% (50/52) of simple vascular tortuosity and 17% (9/52) of a corkscrew pattern. A corkscrew pattern involved only small veins, whereas simple vascular tortuosity could affect both arteries and veins. No statistically significant age correlation was observed, but evolution of RVAs from simple vascular tortuosity to corkscrew pattern was observed in 5 cases.

Conclusion: Retinal vascular abnormalities occurred in 37.1% of children with NF1. These abnormalities may result from NF1 promoting localized tortuosity in both small arteries and veins, whereas only small second-order or tertiary-order venules evolve to a highly tortuous pattern.

PubMed Disclaimer

Comment in

  • Correspondence.
    Lucchino L, Mallone F, Moramarco A. Lucchino L, et al. Retina. 2022 Aug 1;42(8):e35-e36. doi: 10.1097/IAE.0000000000003532. Retina. 2022. PMID: 35877969 No abstract available.
  • Reply.
    Touzé R, Abitbol MM, Bremond-Gignac D, Robert MP. Touzé R, et al. Retina. 2022 Aug 1;42(8):e36-e38. doi: 10.1097/IAE.0000000000003533. Retina. 2022. PMID: 35877970 No abstract available.

References

    1. Yasunari T, Shiraki K, Hattori H, Miki T. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet 2000;356:988–992.
    1. Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases. Br J Ophthalmol 2002;86:282–284.
    1. Viola F, Villani E, Natacci F, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology 2012;119:369–375.
    1. Parrozzani R, Clementi M, Frizziero L, et al. In vivo detection of choroidal abnormalities related to NF1: feasibility and comparison with standard NIH diagnostic criteria in pediatric patients. Invest Ophthalmol Vis Sci 2015;56:6036–6042.
    1. Moramarco A, Giustini S, Nofroni I, et al. Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1. Graefes Arch Clin Exp Ophthalmol 2018;256:307–311.