Dr.Nishchitha, N16887, Dr. Roma Johri, Femi K Sam,Dr. Bhavagna Bandla
Neurofibromatosis (NF) I is a common inherited multisystem ,neurocutaneous disorder. 1-10 % of patients have cranio-orbital-temporal NF. Other ocular findings are pulsatile exophthalmos, enopthalmos, orbital neurofibroma, sphenoid wing dysplasia with orbital herniation of temporal lobe and temporal fossa bulge.
A 21 year old female diagnosed with NF 1 presented with unilateral proptosis for 3 years. Visual acuity was 6/6 in OU. Ocular examination showed right eye non synchronous pulsatile, exophthalmos and Lisch nodule and iris mamillations. Imaging showed right side sphenoid wing dysplasia with postero-superior orbital wall defect with orbital herniation of right temporal and frontal lobe.Her mother has multiple neurofibroma.
Conclusion : A wide spectrum of orbital and cranial lesions are present in patients with orbital NF-1 requiring a detailed systemic, ophthalmic & radiological examination for diagnosis and management. Emphasis on genetic counselling is important due its inheritance