OCULAR MANIFESTATIONS OF TYPE 1 NEUROFIBROMATOSIS

Abstract

Ocular type 1 neurofibromatosis is an autosomal dominant phacomatosis with variable expression and the occurrence of characteristic changes in the eye. The most frequent ophthalmologic finding in the eye is the presence of characteristic iris nodules. The shared result also describes the neurofibromatosis of the upper eyelid, an optic nerve glioma, choroidal hamartomas as well as congenital glaucoma. In addition, the paper gives a detailed presentation of a patient with type 1 neurofibromatosis, with the characteristic changes on the skin, which spread on the central nervous system and characteristic changes in the eye and its adnexa.It is also points out how much a detailed ophthalmologic examination is essential for detecting and recognizing possible manifestations, as well as criteria for making correct diagnoses of ophthalmologic diseases. Furthermore, the paper presents criteria for making diagnoses of type 1 neurofibromatosis in detail, taking into account a large number of manifestations on different organs.

Keywords

• type 1 neurofibromatosis
• ocular manifestations