A case of congenital glaucoma in type I neurofibromatosis

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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, Moscow

K. 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, Moscow

Anna 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


Russian Federation, Moscow

A. 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, Moscow


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Supplementary files

Supplementary Files
1. Fig. A child with glaucoma associated with type I neurofibromatosis, buphthalmos, exophthalmos.

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