Changes in the organ of vision in neurofibromatosis type 1 in the developmental age
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. Syst...
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| Language: | English |
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Termedia Publishing House
2024-10-01
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| Series: | Klinika Oczna |
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| Online Access: | https://www.termedia.pl/Changes-in-the-organ-of-vision-in-neurofibromatosis-type-1-r-nin-the-developmental-age,124,54949,1,1.html |
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| author | Mirosława Grałek Katarzyna Piasecka Katarzyna Wasyliszyn-Sieroszewska Anna Niwald |
| author_facet | Mirosława Grałek Katarzyna Piasecka Katarzyna Wasyliszyn-Sieroszewska Anna Niwald |
| author_sort | Mirosława Grałek |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2f9ea6f41e2946a790d5e849db110f95 |
| institution | Kabale University |
| issn | 0023-2157 2719-3209 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Klinika Oczna |
| spelling | doaj-art-2f9ea6f41e2946a790d5e849db110f952025-01-24T13:02:25ZengTermedia Publishing HouseKlinika Oczna0023-21572719-32092024-10-01126311912310.5114/ko.2024.14377254949Changes in the organ of vision in neurofibromatosis type 1 in the developmental ageMirosława GrałekKatarzyna PiaseckaKatarzyna Wasyliszyn-SieroszewskaAnna NiwaldNeurofibromatosis 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.https://www.termedia.pl/Changes-in-the-organ-of-vision-in-neurofibromatosis-type-1-r-nin-the-developmental-age,124,54949,1,1.htmlneurofibromatosis type 1 etiology general symptoms ocular changes management. |
| spellingShingle | Mirosława Grałek Katarzyna Piasecka Katarzyna Wasyliszyn-Sieroszewska Anna Niwald Changes in the organ of vision in neurofibromatosis type 1 in the developmental age Klinika Oczna neurofibromatosis type 1 etiology general symptoms ocular changes management. |
| title | Changes in the organ of vision in neurofibromatosis type 1
in the developmental age |
| title_full | Changes in the organ of vision in neurofibromatosis type 1
in the developmental age |
| title_fullStr | Changes in the organ of vision in neurofibromatosis type 1
in the developmental age |
| title_full_unstemmed | Changes in the organ of vision in neurofibromatosis type 1
in the developmental age |
| title_short | Changes in the organ of vision in neurofibromatosis type 1
in the developmental age |
| title_sort | changes in the organ of vision in neurofibromatosis type 1 in the developmental age |
| topic | neurofibromatosis type 1 etiology general symptoms ocular changes management. |
| url | https://www.termedia.pl/Changes-in-the-organ-of-vision-in-neurofibromatosis-type-1-r-nin-the-developmental-age,124,54949,1,1.html |
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