Fundus image observation of choroidal nodules in neurofibromatosis type 1_Chinese Journal of Ocular Fundus Diseases

Authors：

He Dan , Zhang Juan ,  Li Juanjuan

Department of Ophthalmology, Yunnan University Affiliated Hospital, Key Laboratory of Eye Disease Research of Yunnan Province, Yunnan Eye Hospital, Kunming 650021, China;

Corresponding author：

Li Juanjuan, Email: ljj800502@163.com

Keywords：

Neurofibromatosis type 1; Choroidal nodules; Infrared photography; Tomography, optical coherence

DOI：

10.3760/cma.j.cn511434-20221010-00535

Video：

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Objective To observe the imaging characteristics of fundus choroidal nodules in patients with neurofibromatosis type 1 (NF1). Methods A retrospective clinical study. From January 2018 to August 2022, 20 eyes of 10 patients with NF1 combined with choroidal nodules who were diagnosed by ophthalmology examination at the Affiliated Hospital of Yunnan University were included in the study. Among them, there were 6 male cases with 12 eyes and 4 female cases with 8 eyes; both eyes were affected. Age was (28.0±6.9) years old. Both eyes were involved. All patients underwent color fundus photography, infrared fundus photography (IR), fundus autofluorescence (FAF), fluorescein fundus angiography (FFA), and optical coherence tomography (OCT). Nine eyes underwent multi-wavelength color imaging (MC) and 5 eyes underwent OCT angiography (OCTA). Results In 20 eyes, fundus color photography showed "spiral-like" changes in the small retinal blood vessels on the surface of the choroidal nodules in 1 eye. FAF and FFA examination showed no abnormalities in all affected eyes. On IR examination, choroidal nodules appeared as strong reflective lesions of varying sizes and numbers, in the form of spots and/or sheets, and were partially fused. In the 9 eyes that underwent MC examination, patchy red signals was observed in standard MC images. OCT examination showed that all affected eyes had strong choroidal reflective mass lesions under the retinal pigment epithelium, which were flat patchy or slightly raised “dome-like”, corresponding to IR strong reflective lesions. The choriocapillaris layer was squeezed and thinned, and the large choroidal vessels show weak reflection. Five eyes underwent OCTA examination, there was no loss of blood flow density at the choroidal nodules and the of the superficial an deep retinal capillary plexus in 3 eyes. The choroidal capillary blood flow density was reduced in 2 eyes. Conclusion IR of choroidal nodules is characterized by strong reflection lesions of varying sizes and numbers, which appear in spots and/or sheets. OCT shows enhanced reflection of the choriocapillaris layer corresponding to the strong IR reflection lesions.

Citation： He Dan, Zhang Juan, Li Juanjuan. Fundus image observation of choroidal nodules in neurofibromatosis type 1. Chinese Journal of Ocular Fundus Diseases, 2023, 39(10): 823-827. doi: 10.3760/cma.j.cn511434-20221010-00535 Copy

1.	Chong C, Webber AL, Dai S. Ocular manifestations of systemic diseases in children[J]. Clin Exp Optom, 2022, 106(3): 238-248. DOI: 10.1080/08164622.2022.2048999.
2.	Yasunari T, Shiraki K, Hattori H, et al. Frequency of choroidal abnormalities in neurofibromatosis type 1[J]. Lancet, 2000, 356(9234): 988-992. DOI: 10.1016/S0140-6736(00)02716-1.
3.	Moreno-Morillo FJ, Fernández-Vigo JI, Burgos-Blasco B, et al. Optical coherence tomography angiography of choroidal nodules in neurofibromatosis type-1: a case series[J]. Eur J Ophthalmol, 2022, 32(6): 91-94. DOI: 10.1177/11206721211030781.
4.	Kumar V, Singh S. Multimodal imaging of choroidal nodules in neurofibromatosis type-1[J]. Indian J Ophthalmol, 2018, 66(4): 586-588. DOI: 10.4103/ijo.IJO_1095_17.
5.	Kehrer-Sawatzki H, Cooper DN. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants[J]. Hum Genet, 2022, 141(2): 177-191. DOI: 10.1007/s00439-021-02410-z.
6.	Flores Pimentel M, Heath A, Wan MJ, et al. Prevalence of choroidal abnormalities and lisch nodules in children meeting clinical and molecular diagnosis of neurofibromatosis type 1[J]. Transl Vis Sci Technol, 2022, 11(2): 10. DOI: 10.1167/tvst.11.2.10.
7.	Rauen KA, Huson SM, Burkitt-Wright E, et al. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues[J]. Am J Med Genet A, 2015, 167A(1): 1-10. DOI: 10.1002/ajmg.a.36793.
8.	Viola F, Villani E, Natacci F, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1[J]. Ophthalmology, 2012, 119(2): 369-375. DOI: 10.1016/j.ophtha.2011.07.046.
9.	Vagge A, Camicione P, Capris C, et al. Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population[J/OL]. Acta Ophthalmol, 2015, 93(8): e667-e671[2015-05-19]. https://pubmed.ncbi.nlm.nih.gov/25990002/. DOI: 10.1111/aos.12750.
10.	Abdolrahimzadeh S, Felli L, Plateroti R, et al. Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1[J]. Br J Ophthalmol, 2015, 99(6): 789-793. DOI: 10.1136/bjophthalmol-2014-306062.
11.	Byun YS, Park YH. Indocyanine green angiographic findings of obscure choroidal abnormalities in neurofibromatosis[J]. Korean J Ophthalmol, 2012, 26(3): 230-234. DOI: 10.3341/kjo.2012.26.3.230.
12.	Koçer AM, Atesoglu Hİ, Yılmaz A, et al. Quantitative OCT angiography of the retinal and choroidal vascular circulation in pediatric patients with neurofibromatosis type 1[J]. J AAPOS, 2022, 26(4): 189. DOI: 10.1016/j.jaapos.2022.05.005.
13.	Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases[J]. Br J Ophthalmol, 2002, 86(3): 282-284. DOI: 10.1136/bjo.86.3.282.
14.	Destro M, D’Amico D, Gragoudas ES, et al. Retinal manifestations of neurofibromatosis[J]. Arch Ophthalmol, 1991, 109(5): 662-666. DOI: 10.1001/archopht.1991.01080050076033.
15.	Makino S, Tampo H, Arai Y, et al. Correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1[J]. Clin Ophthalmol, 2014, 8: 165-168. DOI: 10.2147/OPTH.S56327.

1. Chong C, Webber AL, Dai S. Ocular manifestations of systemic diseases in children[J]. Clin Exp Optom, 2022, 106(3): 238-248. DOI: 10.1080/08164622.2022.2048999.
2. Yasunari T, Shiraki K, Hattori H, et al. Frequency of choroidal abnormalities in neurofibromatosis type 1[J]. Lancet, 2000, 356(9234): 988-992. DOI: 10.1016/S0140-6736(00)02716-1.
3. Moreno-Morillo FJ, Fernández-Vigo JI, Burgos-Blasco B, et al. Optical coherence tomography angiography of choroidal nodules in neurofibromatosis type-1: a case series[J]. Eur J Ophthalmol, 2022, 32(6): 91-94. DOI: 10.1177/11206721211030781.
4. Kumar V, Singh S. Multimodal imaging of choroidal nodules in neurofibromatosis type-1[J]. Indian J Ophthalmol, 2018, 66(4): 586-588. DOI: 10.4103/ijo.IJO_1095_17.
5. Kehrer-Sawatzki H, Cooper DN. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants[J]. Hum Genet, 2022, 141(2): 177-191. DOI: 10.1007/s00439-021-02410-z.
6. Flores Pimentel M, Heath A, Wan MJ, et al. Prevalence of choroidal abnormalities and lisch nodules in children meeting clinical and molecular diagnosis of neurofibromatosis type 1[J]. Transl Vis Sci Technol, 2022, 11(2): 10. DOI: 10.1167/tvst.11.2.10.
7. Rauen KA, Huson SM, Burkitt-Wright E, et al. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues[J]. Am J Med Genet A, 2015, 167A(1): 1-10. DOI: 10.1002/ajmg.a.36793.
8. Viola F, Villani E, Natacci F, et al. Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1[J]. Ophthalmology, 2012, 119(2): 369-375. DOI: 10.1016/j.ophtha.2011.07.046.
9. Vagge A, Camicione P, Capris C, et al. Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population[J/OL]. Acta Ophthalmol, 2015, 93(8): e667-e671[2015-05-19]. https://pubmed.ncbi.nlm.nih.gov/25990002/. DOI: 10.1111/aos.12750.
10. Abdolrahimzadeh S, Felli L, Plateroti R, et al. Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1[J]. Br J Ophthalmol, 2015, 99(6): 789-793. DOI: 10.1136/bjophthalmol-2014-306062.
11. Byun YS, Park YH. Indocyanine green angiographic findings of obscure choroidal abnormalities in neurofibromatosis[J]. Korean J Ophthalmol, 2012, 26(3): 230-234. DOI: 10.3341/kjo.2012.26.3.230.
12. Koçer AM, Atesoglu Hİ, Yılmaz A, et al. Quantitative OCT angiography of the retinal and choroidal vascular circulation in pediatric patients with neurofibromatosis type 1[J]. J AAPOS, 2022, 26(4): 189. DOI: 10.1016/j.jaapos.2022.05.005.
13. Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases[J]. Br J Ophthalmol, 2002, 86(3): 282-284. DOI: 10.1136/bjo.86.3.282.
14. Destro M, D’Amico D, Gragoudas ES, et al. Retinal manifestations of neurofibromatosis[J]. Arch Ophthalmol, 1991, 109(5): 662-666. DOI: 10.1001/archopht.1991.01080050076033.
15. Makino S, Tampo H, Arai Y, et al. Correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1[J]. Clin Ophthalmol, 2014, 8: 165-168. DOI: 10.2147/OPTH.S56327.

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