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eISSN: 2719-3209
ISSN: 0023-2157
Klinika Oczna / Acta Ophthalmologica Polonica
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SCImago Journal & Country Rank
3/2024
vol. 126
 
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abstract:
Review article

Changes in the organ of vision in neurofibromatosis type 1 in the developmental age

Mirosława Grałek
1
,
Katarzyna Piasecka
1
,
Katarzyna Wasyliszyn-Sieroszewska
1
,
Anna Niwald
1

  1. Department of Pediatric Ophthalmology, M. Konopnicka University Pediatrics Center, Independent Public Healthcare Center – Central Teaching Hospital of the Medical University of Lodz, Poland
KLINIKA OCZNA 2024, 126, 3: 119-123
Online publish date: 2024/10/09
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Neurofibromatosis type 1 is a genetic disorder with clinical manifestations determined by their origin in the three germ layers. Globally, the prevalence of neurofibromatosis type 1 is estimated at 1 : 3,000 to 1 : 3,500. Clinical manifestations include both systemic and vision-related changes. Systemic disorders in affected children include primarily neurofibromatas manifesting as hamartoma, located in the skin, in various internal organs, and in the organ of vision. Ocular manifestations mainly present as eyelid abnormalities due to hamartomas, Lisch nodules on the iris, optic glioma, and glaucoma.

Diagnostics relies on clinical and imaging evaluations, as well as genetic testing. There is no causal treatment. The therapeutic management depends on each patient’s specific needs. Children with neurofibromatosis type 1 with ocular lesions require regular ophthalmic care.
keywords:

neurofibromatosis type 1, etiology, general symptoms, ocular changes, management

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