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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Eye disorders in neurofibromatosis (NF1).

Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years. They were checked repeatedly for ophthalmologic disorders. Frequent eye disorders were: Lisch nodules (Iris hamartomas, IH) 78%, hyperthelorism 19.7%, bulbomotoric disorders 15.9%, disorders of the optic disc 16.7% and optic gliomas (18.9%). The highest incidence of eye disorders by NF1 patients showed Lisch nodules (IH). Its ease of clinical recognition and if present with other diagnostic signs (for instance café au lait patches) could be deemed as reliable diagnostic criterion of NF1 in childhood.[1]

References

  1. Eye disorders in neurofibromatosis (NF1). Kordić, R., Sabol, Z., Cerovski, B., Katusić, D., Jukić, T. Collegium antropologicum. (2005) [Pubmed]
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