Glyxambi
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 1631
  • Home
  • Print this page
  • Email this page

   Table of Contents      
PHOTO ESSAY
Year : 2019  |  Volume : 67  |  Issue : 12  |  Page : 2054-2055

Neurofibromatosis type-1 with retinal microvascular corkscrew tortuosity


1 Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut Street, 14th Floor, Philadelphia, PA, USA
2 Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut Street, 14th Floor, Philadelphia, PA; Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA

Date of Submission27-Sep-2019
Date of Acceptance06-Nov-2019
Date of Web Publication22-Nov-2019

Correspondence Address:
Dr. Carol L Shields
Ocular Oncology Service, 840 Walnut Street, Suite 1440, Philadelphia - 19107, PA
USA
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1796_19

Rights and Permissions

Keywords: Corkscrew vessels, neurofibromatosis type-1, retina, vascular tortuosity


How to cite this article:
Battiston AJ, Dalvin LA, Shields CL. Neurofibromatosis type-1 with retinal microvascular corkscrew tortuosity. Indian J Ophthalmol 2019;67:2054-5

How to cite this URL:
Battiston AJ, Dalvin LA, Shields CL. Neurofibromatosis type-1 with retinal microvascular corkscrew tortuosity. Indian J Ophthalmol [serial online] 2019 [cited 2019 Dec 11];67:2054-5. Available from: http://www.ijo.in/text.asp?2019/67/12/2054/271367



A 40-year-old Caucasian woman presented with the history of neurofibromatosis type-1 (NF-1), diagnosed at age 5 years, with cutaneous neurofibromas on the face, back, and chest, and arachnoid cyst. Best-corrected visual acuity was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination revealed multifocal iris Lisch nodules in both eyes. Fundoscopic examination in the right eye revealed [Figure 1]a 3 areas of retinal microvascular tortuosity, including superonasal to the optic disc (white arrows, 6.0 mm by 3.0 mm), in the papillomacular bundle (yellow arrows 1.5 mm by 1.0 mm), and inferior to the macula (blue arrows, 2.0 by 2.0 mm). In the left eye [Figure 1]b, there was 1 area of microvascular tortuosity in the papillomacular bundle (yellow arrows, 2.0 × 2.0 mm). Retinal microvascular tortuosity was confirmed on fundus autofluorescence imaging in the right [Figure 1]c and left [Figure 1]d eyes.
Figure 1: Fundoscopic examination in the right eye revealed (a) 3 areas of retinal microvascular tortuosity, including superonasal to the optic disc (white arrows, 6.0 mm by 3.0 mm), in the papillomacular bundle (yellow arrows 1.5 mm by 1.0 mm), and inferior to the macula (blue arrows, 2.0 by 2.0 mm). In the left eye, (b) there was 1 area of microvascular tortuosity in the papillomacular bundle (yellow arrows, 2.0 × 2.0 mm). Retinal microvascular tortuosity was confirmed on fundus autofluorescence imaging in the right (c) and left (d) eyes

Click here to view


By fluorescein angiography, areas of retinal microvascular tortuosity were visible [Figure 2] in each eye, without evidence of leakage, staining, or neovascularization.
Figure 2: In the right eye, areas of retinal microvascular tortuosity were visible (A) superonasal to the optic disc (white arrows) and (B) inferior to the macula (blue arrows). (C) In the left eye, retinal microvascular tortuosity was observed in the papillomacular bundle (yellow arrows)

Click here to view


Underlying the microvascular abnormalities were multiple hypopigmented choroidal lesions, suggestive of hamartoma, nevus, or neurofibroma. On OCT (vertical cut), these corresponded to [Figure 3] areas of increased choroidal density in the outer choroid (white arrow). Based on the benign retinal and choroidal findings, observation was advised.
Figure 3: Underlying the microvascular abnormalities were multiple hypopigmented choroidal lesions, suggestive of hamartoma, nevus, or neurofibroma. On OCT (vertical cut), these corresponded to [Figure 3] areas of increased choroidal density in the outer choroid (white arrow)

Click here to view


Retinal microvascular findings in NF-1 are likely congenital, representing defective migration of vasomotor nerve cells from the neural crest.[1],[2],[3] These benign abnormalities remain stable over time without retinal ischemia, exudation, hemorrhage, vascular leakage, or visual acuity loss.[1],[2],[3],[4] An analysis of 34 NF-1 patients demonstrated retinal microvasculature abnormalities (6/34) and choroidal nodules (23/34),[4] while a larger cohort found no correlation of microvascular changes (18/294) with choroidal nodules (186/294) (P = 0.48).[3] Our case exemplifies the subtle nature of microvascular abnormalities with underlying choroidal nodules in NF-1.

Support provided in part by the Eye Tumor Research Foundation, Philadelphia, PA (CLS), an unrestricted grant from Research to Prevent Blindness, Inc (LAD), and the Heed Ophthalmic Foundation (LAD). The funders had no role in the design and conduct of the study, in the collection, analysis, and interpretation of the data, and in the preparation, review, or approval of the manuscript. Carol L. Shields, M.D. has had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. The authors have no conflicts of interest. All authors have read and approved the manuscript.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Abdolrahimzadeh S, Felli L, Piraino DC, Mollo R, Calvieri S, Recupero SM. Retinal microvascular abnormalities overlying choroidal nodules in neurofibromatosis type 1. BMC Ophthalmol 2014;14:146.  Back to cited text no. 1
    
2.
Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in neurofibromatosis type 1: Report of 12 cases. Br J Ophthalmol 2002;86:282-4.  Back to cited text no. 2
    
3.
Parrozzani R, Pilotto E, Clementi M, Frizziero L, Leonardi F, Convento E, et al. Retinal vascular abnormalities in a large cohort of patients affected by neurofibromatosis type 1: A study using optical coherence tomography angiography. Retina 2018;38:585-93.  Back to cited text no. 3
    
4.
Cassiman C, Casteels I, Stalmans P, Legius E, Jacob J. Optical coherence tomography angiography of retinal microvascular changes overlying choroidal nodules in neurofibromatosis type 1. Case Rep Ophthalmol 2017;8:214-20.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
References
Article Figures

 Article Access Statistics
    Viewed151    
    Printed0    
    Emailed0    
    PDF Downloaded50    
    Comments [Add]    

Recommend this journal