Neurofibromatosis

Neurofibromatosis
- autosomal dominant
- affect neural crest tissue (shwann cell and melanocytes)

NF 1 ( 2 or more criteria) Von-Recklinghausen dz - chromosome 17q
1. 2 or more neurofibroma or one plexiform neurofibroma.
2. Axillary / inguinal frecklings
3. Optic nerve / tract glioma
4. Two or more iris Lisch nodule
5. Characteristic osseus sign (i.e sphenoid dysplasia)
6. 6 or more cafe au lait spots, 15 mm or more in adult, 5mm or more in children.
7. First degree relative with NF 1 by criteria.

NF 2 bilateral acoustic neurofibromatosis
1. Bilateral acoustic neuroma
2. First degree relative with NF2 and either single acoustic neuroma or 2 of following:
- glioma
- neurilemmoma
- meningioma
- neurofibroma
- premature posterior subcapsular cataract

So, what are the ocular findings?

NF 1
Lisch nodule
Eyelid - cafe au lait, neurofibroma ( s-shaped eyelid), plexiform neurofibroma.
Ipsilateral glaucoma
Proptosis sec to bony defects or tumors
Conjunctival neurofibromas
Enlarged corneal nerve
Diffuse uveal thickening
Choroidal hamartomas
Retinal astrocytic and combined hamartomas
Optic nerve glioma ( by MRI)

NF2

Premature PSCC in 40 percent
Combined retinal hamartomas
Optic nerve meningioma and glioma
NO Lisch Nodule!!!

--> patient need to have routine 6-12 month eye exaination for glaucoma, cataract and ocular malignancies.


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