Von Recklinghausen disease is associated with:
Correct Answer: All the above
Description: Ans. (d) All the aboveRef: Kanski 7/e, p. 854; Yanoff 2/e, p. 1098NF-1 is the most common phakomatosis. It is Autosomal Dominant (AD).Ocular features# Orbital Optic nerve glioma Spheno-orbita encephalocoele# Eyelid - Ipsilateral plexiform neurofibroma# Glaucoma - unilateral and congenital# Iris lesions Lisch nodules (Hamartomas) Ectropion uveae# Prominent corneal nerves# Choroidal nevi# Posterior subcapsular cataractNF1 (Von Recklinghausen disease)Diagnostic Criteria - 2 or more should be present >=6 cafe-au-lait macules Freckling (Axillary or inguinal) - Pathognomonic>=2 neurofibromas (any) or 1 plexiform neurofibroma (it involves the eyelid, gives the characteristic S- shaped deformity) Optic glioma Osseous lesion (such as sphenoid dysplasia)>=2 Lisch Nodules First degree relative with NF1,Mnemonic: CAN GOLF
Category:
Ophthalmology
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