Massive retinal gliosis in neurofibromatosis type 1.

نویسندگان

  • Frederick A Jakobiec
  • Alia Rashid
  • Kyle Lewis
چکیده

Massive Retinal Gliosis in Neurofibromatosis Type 1 Neurofibromatosis type 1 (NF1), an autosomal dominant syndrome, has major extraocular expressions of bilateral ptosis, diffuse and plexiform neurofibromas, optic nerve gliomas, and dysplasia of the sphenoid bone. With respect to the eyeball, the spectrum of involvement includes enlarged corneal nerves, Lisch iris nodules, dysplasia of the anterior chamber angle causing glaucoma, multiple choroidal nevi (formerly called fundus café au lait spots), diffuse uveal hamartomatous thickening (containing a mixture of melanocytes, Schwann cells, and occasional ganglion cells), enlarged nerves, uveal peripheral nerve tumors, and rare retinal astrocytic hamartomas.1,2 In this article, we describe the first association, to our knowledge, between massive retinal gliosis (MRG) and NF1.3,4

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عنوان ژورنال:
  • JAMA ophthalmology

دوره 133 1  شماره 

صفحات  -

تاریخ انتشار 2015