Journal of Isfahan Medical School

Journal of Isfahan Medical School

Unilateral Aggressive Ischemic Proliferative Retinopathy in a Child with Neurofibromatosis Type 1, A Case Report

Document Type : Case Report

Authors
Mohammad Malekahmadi 1
Alireza Dehghani 2
Heshmatollah Ghanbari 2
Mehdi Tavakoli 3
1 Assistant Professor, Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
2 Professor, Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
3 Ophthalmologist, Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
10.48305/jims.v40.i704.1138
Abstract
Background: Neurofibromatosis is one of the phacomatosis syndromes that affects different organs in the body and is divided into two types. Neurofibromatosis type 1 can cause eye involvement in various forms, including eyelid, conjunctiva, iris or optic nerve involvement. Involvement of retinal vessels in the form of retinal ischemia is rare in this disease and usually occurs in the second or third decades of life and is controlled by laser treatment or surgery.
Case Report: In this report, we introduce a 3-year-old girl with neurofibromatosis type 1 who suffered severe retinal ischemia. This child suffered unilateral retinal involvement in the form of ischemic retinopathy with retinal and vitreous hemorrhage in her left eye, and despite two vitrectomy and retinal laser surgery in the left eye, the retinal involvement progressed and eventually the vision in the left eye was lost.
Conclusion: This report shows for the first-time retinal involvement at a young age in a patient with neurofibromatosis type 1 and its resistant nature.
Keywords
Neurofibromatosis 1
Ischemia
Retinal disease
Retinopathy

Subjects

  1. Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am 2019; 103(6): 1035-54.
  2. Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR. Health supervision for children with neurofibromatosis type 1. Pediatrics 2019; 143(5):
  3. Jett K, Friedman MJ. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12(1): 1-11.
  4. Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci 2021; 22(11):
  5. Abdolrahimzadeh B, Piraino DC, Albanese G, Cruciani F, Rahimi S. Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. Clin Ophthalmol 2016; 10: 851-60.
  6. Moadel K, Yannuzzi LA, Ho AC, Ursekar A. Retinal vascular occlusive disease in a child with neurofibromatosis. Arch Ophthalmol 1944; 112(8): 1021-3.
  7. Chiharu K, Yasunori N, Seiji H. Unilateral peripheral retinal vascular occlusion in a young Japanese woman with neurofibromatosis-1. Retina 2003; 23(4): 541-3.
  8. Tholen AM, Messmer EP, Landau K. Peripheral
    retinal vascular occlusive disorder in young patient with neurofibromatosis 1. Retina 1998; 18: 184-6.
  9. Lecleire‐Collet A, Cohen SY, Vignal C, Gaudric A, Lecleire‐Collet A, Quentel G. Retinal ischaemia in type 1 neurofibromatosis. Br J Ophthalmol 2006; 90(1): 117.
  10. Elgin U, Berker N, Teke MY, Simsek T, Ozdal P. Unusual association of peripheral retinal ischemia-induced neovascular glaucoma and neurofibromatosis type-1. J Pediatr Ophthalmol Sstrabismus 2010; 47 Online: e1-37.
  11. Pichi F, Morara M, Lembo A, Ciardella A, Meduri A, Nucci P. neovascular glaucoma induced by peripheral retinal ischemia in neurofibromatosis type 1: management and imaging features. Case Rep Ophthalmol 2013; 4: 69-73.
  12. Seth A, Ghosh B, Gupta A, Goel N. Peripheral retinal ischema in young Indian woman with neurofibromatosis type 1. Saudi J Ophthalmol 2016; 30(1): 60-3.
  13. Sakai H, Kawata K, Masuoka J, Nishimura T, Enaida H. Diagnosis and clinical course of ocular ischemic syndrome with retinal vascular abnormalities due to unilateral ocular artery and internal carotid artery stenosis in a child with neurofibromatosis type 1: a case report. BMC Ophthalmol 2020; 20: 426.
Journal of Isfahan Medical School
Volume 40, Issue 704
4th Week, March
March and April 2023
Pages 1138-1142

  • Receive Date 10 December 2022
  • Revise Date 02 April 2023
  • Accept Date 13 February 2023