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Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexif...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747081/ https://www.ncbi.nlm.nih.gov/pubmed/33437232 http://dx.doi.org/10.1159/000510013 |
Sumario: | Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally. |
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