Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Grand Rounds Conference Reema Syed, MBBS University of Louisville Department of Ophthalmology and Visual Sciences June 19, 2015 Subjective CC: “Droopy eyelids” for a few years HPI: 75 year old white female with chronic low vision OS complains of bilateral droopy eyelids, OS>OD, obstructing vision History POH: Eyelid surgery OS 1980s PMH: Neurofibromatosis I Meds: none Allergies: none Objective OD BCVA: Pupils: IOP: EOM: CVF: 20/20-3 3 to 2 mm OS CF @ 2 ft 3 to 2 mm + rAPD 16 mmHg 14 mmHg Full OU, orthophoric in primary gaze constricted superiorly OU Objective Dermatochalasis OU, Ptosis LUL, MRD 4mm/1mm, LF 12/11 mm Objective Pulsatile left globe, Hertel 92 12 11,12 Anterior segment exam: wnl OU Dilated fundus exam: OD wnl OS optic nerve pallor CT Scan Absence of left sphenoid wing, temporal lobe herniation into orbit CT Scan Left orbital enlargement, defect in posterior orbital roof Assessment 75 year old white female with Neurofibromatosis I Left sphenoid wing dysplasia Chronic low vision OS secondary to optic atrophy Dermatochalasis OU obstructing vision Ptosis left upper lid Plan Neuro-surgery referral for possible reconstruction of skull base defect Upper lid blepharoplasty OU, Ptosis repair to improve peripheral vision NF 1/von Recklinghausen disease Autosomal dominant disorder, mutation of neurofibromin gene on chromosome 17 q11.2 Incidence of 1 in 3,500 live birth Women and men are affected equally NF-1 Neurofibromin - expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes Disease characterized by multiple neurofibromas. Variable phenotypic expression 2-4x increased risk of other tumors (leukemia, meningioma, pheochromocytoma, rhabdomyosarcoma) NF1 – Cutaneous manifestations NF1 – ophthalmic manifestations NF1 – ophthalmic manifestations Optic nerve glioma – fusiform dilation of the nerve. T1 images of optic gliomas appear as hypointense, whereas T2 images hyperintense Diagnostic criteria Some debate in the literature about the pathogenesis of sphenoid wing dysplasia congenital maldevelopment vs progressive sphenoid dysplasia due to the presence of adjacent tumors causing • early closure of cranial sutures that in turn precipitate an abnormal development of the sphenoid bone as the skull expands during childhood • Or direct bone resorption by the tumor in older patients Decalcification of sphenoid bone (arrowheads) adjacent to neurofibroma infiltration of the lateral rectus muscle (arrows). Bilateral facial soft-tissue tumor infiltration, bilateral enlarged middle cranial fossae (arrowheads) and bilateral large globes (buphthalmos) independent of glaucoma References BCSC orbits, eyelids and lacrimal system BCSC ophthalmic pathology and intraocular tumors Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Chaudhry IA. Eye (Lond). 2012 Apr; 26(4): 583–592. Dysplasia of the Orbit and Adjacent Bone Associated with Plexiform Neurofibroma and Ocular Disease in 42 NF-1 Patients. Friedrich RE. Anticancer Research May 2010 vol. 30 no. 51751-1764 Thank you