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A case of congenital glaucoma in type I neurofibromatosis
- Authors: Pleskova A.V.1, Lugovkina K.V.1, Panova A.Y.1, Sorokin A.A.1
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Affiliations:
- Helmholtz National Medical Research Center of Eye Diseases
- Issue: Vol 16, No 3 (2021)
- Pages: 37-42
- Section: Case reports
- URL: https://ruspoj.com/1993-1859/article/view/79195
- DOI: https://doi.org/10.17816/rpoj79195
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Abstract
BACKGROUND: Recklinghausen’s generalized neurofibromatosis (NF) is a hereditary disease characterized by the formation of benign tumors from the nervous tissue that provokes skin and bone changes of various types. Often, involvement in the pathological process and the organ of vision. The variability of eye lesions in NF-I type is known according to the clinical course, severity, and clinical forms. Gliomas and atrophy of the optic nerves, neurofibromas in the iris, sclera, conjunctiva, eyelids, less often — glaucoma, buphthalmos, orbital osteodystrophy are described.
RESULTS: The article describes a rare case of type I neurofibromatosis, the first clinical manifestation of congenital glaucoma. Modern complex ophthalmological examination made it possible to identify the cause and clarify the nature of the development of glaucoma.
CONCLUSION: The need for an interdisciplinary approach to the diagnosis, dispensary observation, and treatment of NF-I is emphasized.
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About the authors
A. V. Pleskova
Helmholtz National Medical Research Center of Eye Diseases
Email: dho@igb.ru
ORCID iD: 0000-0002-4458-4605
MD, Dr. Med. Sciences
Russian Federation, MoscowK. V. Lugovkina
Helmholtz National Medical Research Center of Eye Diseases
Email: ksushalyg@mail.ru
ORCID iD: 0000-0002-3531-3846
MD, PhD, Researcher
Russian Federation, MoscowAnna Yu. Panova
Helmholtz National Medical Research Center of Eye Diseases
Email: annie_panova18@mail.ru
ORCID iD: 0000-0003-2103-1570
SPIN-code: 9930-4813
MD, PhD
Russian Federation, MoscowA. A. Sorokin
Helmholtz National Medical Research Center of Eye Diseases
Author for correspondence.
Email: a.a.sorokin@inbox.ru
ORCID iD: 0000-0002-8213-8518
PhD student
Russian Federation, MoscowReferences
- Katargina LA, Mazanova EV, Tarasenkov AO, et al. Federal clinical recommendations “Diagnostics, medical and surgical treatment of children with congenital glaucoma” // Russian pediatric ophthalmology. 2016;11(1):33–51. doi: 10.18821/1993-1859-2016-11-1-33-51. (In Russ.)
- Taylor RH, Ainsworth JR, Evans AR, Levin AV. The epidemiology of pediatric glaucoma: the Toronto experience // J AAPOS. 1999; 3(5):308–15. doi: 10.1016/s1091-8531(99)70028-5.
- Yusupovа LA, Yunusovа EI, Garaeva ZS, Mavlyutova GI. Takamatsu: diagnosis, clinical features and peculiarities of different forms of the disease. Lechaschi Vrach. 2018;(5):35. (In Russ.)
- Abdolrahimzadeh S, Fameli V, Mollo R, et al. Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management // BioMed Research International. 2015;2015, Article ID 781294, 11 pages, https://doi.org/10.1155/2015/781294.
- Azuara-Blanco A, Traverso CE. (2020). Terminology and Guidelines for Glaucoma.URL ://www.eugs.org/eng/guidelines.asp (date of the application 15/08/2020)
- Suvorova KN, Antonyev AA. Hereditary dermatoses. M.: Medicine, 1977. 230 p. (In Russ.)
- Petrukhin AS. Pediatric neurology. Textbook: in two volumes. Moscow: GEOTAR-Media. 2012;2:560 р. (In Russ.)
- Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene // Journal of child neurology. 2002;17(8):562–570.
- Grant WM, Walton DS. Distinctive gonioscopic findings in glaucoma due to neurofibromatosis // Arch Ophthalmol. 1968;79:127–34.
- Morales J, Chaudhry IA, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. // Ophthalmology. 2009;116(9):1725–30. doi: 10.1016/j.ophtha.2009.06.019.
- Edward DP, Morales J, Bouhenni RA, et al. Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights // Ophthalmology. 2012;119:1485–1494.
- Payne MS, Nadell JM, Lacassie Y, et al. Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature // J Child Neurol. 2003;18:504–508. doi: 10.1177/08830738030180071101.
- Quaranta L, Semeraro F, Turano R, Gandolfo E. Gonioscopic findings in patients with type 1 neurofibromatosis (Von Recklinghausen disease) // Journal of glaucoma. 2004;13(2):90–95.
- Brownstein S, Little JM. Ocular neurofibromatosis // Ophthalmology. 1983;90(12):1595–1599.
- Hoyt CS, Billson FA. Buphthalmos in neurofibromatosis: is it an expression of regional giantism? // J Pediatr Ophthalmol. 1977;14:228–34.
- Weiss JS, Ritch R. Glaucoma in the phacomatoses // The Glaucomas. 1996; 2: 899–924
- Harasymowycz PJ, Papamatheakis DG, Eagle RC, Wilson RP. Congenital ectropion uveae and glaucoma // Archives of Ophthalmology. 2006;124(2):271–273. doi: 10.1001/archopht.124.2.271.
- Ritch R, Forbes M, Hetherington Jr J, et al. Congenital ectropion uveae with glaucoma // Ophthalmology. 1984;91(4):326–331.
- Colas-Tomas T, Gutierrez-Diaz E, Tejada-Palacios P, et al. Management of congenital glaucoma in neurofibromatosis type 1: A report of two cases // International Ophthalmology. 2010;30(2):211–214. doi.org/10.1007/s10792-009-9307-x.
- Thavikulwat AT, Edward DP, Al Darrab A, Vajaranant TS. Pathophysiology and management of glaucoma associated with phakomatoses // Journal of neuroscience research. 2019;97(1):57–69. doi.org/10.1002/jnr.24241.
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