The ocular symptom of Von Recklinghausen disease is
NF-1 is the most common phakomatosis, affecting 1:4000 individuals, and presents in childhood. The gene locus is on 17q11. For NF- 1, the diagnostic criteria are met if two or more of the following features listed are present: 1. Six or more cafe au lait (CAL) macules greater than 5 mm in prepubeal patients and greater than 15 mm in postpubeal patients 2. Two or more neurofibromas of any type, or one plexiform neurofibroma 3. Axillary or inguinal freckling 4. Optic nerve glioma 5. Two or more Lisch nodules (iris hamaomas) 6. A distinctive osseus lesion such as sphenoid wing dysplasia or coical thinning of long bones, with or without pseudoahrosis 7. A first degree relative with NF- 1 based on the preceding criteria The ocular features are as follows: Orbital involvement: Optic nerve glioma Other neural tumors Spheno-orbital encephalocele Eyelid neurofibromas Iris lesions: Lisch nodules Congenital ectropion uveae Mammillations Prominent corneal nerves Glaucoma--Congenital and infantile glaucomas are common Fundus lesions: Choroidal naevi (not hemangioma) Retinal astrocytomas Anterior chamber angle malformations
Deformed anterior chamber with reduced angle of AC
Glaucoma
Choroidal hemangioma
Subretinal neovascularization
Glaucoma