Transcript Grand Rounds - University of Louisville Ophthalmology

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