Von recklinghausen syndrome (neurofibromatosis type i; neurinomatosis) 1

General: Dominant inheritance activated at puberty, during pregnancy, and at menopause; strong evidence 131h77b supports the existence of NFl as a tumor suppresser gene.

Ocular: Proptosis; displacement of the globe; pulsation of the globe; ptosis; elephantiasis of the lids; pigment spots on lids; hydrophthalmos; nodular swelling of corneal nerves; cataracts; optic atrophy; choroidal melanoma; neurofibroma of the choroid, iris, eyelid, and ciliary body; enlarged optic foramen; underdevelopment of orbital bones; cafe-au-lait spots on fundus; hamartoma of retina; congenital glaucoma; focal iris nodules; choroidal nevi; optic nerve gliomas; orbital neurofibroma; keratoconus.

Clinical: Cafe-au-lait skin pigmentations; fibroma molluscum; lipomas and sebaceous adenomas; schwannomas; growth abnormalities; spontaneous fractures; facial hemihypertrophy.

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Legius E, et al. Somatic deletion of the neurofibromatosis type I gene in a neurofibrosarcoma supports a tumor suppresser gene hypothesis. Nat Genet 1993; 3:122-l25.

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