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PHOTO ESSAY |
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Year : 2019 | Volume
: 67
| Issue : 12 | Page : 2054-2055 |
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Neurofibromatosis type-1 with retinal microvascular corkscrew tortuosity
Adrian J Battiston1, Lauren A Dalvin2, Carol L Shields1
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 Submission | 27-Sep-2019 |
Date of Acceptance | 06-Nov-2019 |
Date of Web Publication | 22-Nov-2019 |
Correspondence Address: Dr. Carol L Shields Ocular Oncology Service, 840 Walnut Street, Suite 1440, Philadelphia - 19107, PA USA
Source of Support: None, Conflict of Interest: None | Check |
DOI: 10.4103/ijo.IJO_1796_19
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 |
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
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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)
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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)
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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 | | |
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. |
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. |
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. |
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. |
[Figure 1], [Figure 2], [Figure 3]
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