Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2

Abstract

SD-OCT revealed ERM in most patients with NF2, therefore it may be a valuable exam for evaluating NF2 patients. Epiretinal membranes in NF2 has unique features, distinguishing it from idiopathic ERM or membranes associated with other diseases. We suggest that flame-shaped ERM seems to be specific for NF2 and that ERM can be considered as an important diagnostic sign of NF2.

Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case

“…Three years later, an epiretinal membrane was found at the posterior pole in the right eye by means of spectral domain optical coherence tomography (I-Vue, Optovue Fremont, CA) scan as previously reported in other studies. 5 Nonetheless, her best corrected visual acuity remained 20/25. Further magnetic resonance imaging scans showed progressive growth of the intra-cranial schwannomas and the patient received Bevacizumab infusions starting with 5 mg/kg two weekly 6 changing to 7.5 mg/kg every three weeks.…”

Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2

“…The SD-OCT technology uses infrared light to render retinal images with very high resolution (<7 μm), allowing individual retinal layers and the vitreoretinal interface to be seen [15]. Studies which have used SD-OCT imaging in patients with NF2 have been able to characterize retinal findings in greater detail and identify novel retinal abnormalities such as retinal tufts, which are projections of tissue extending from the inner retina into the vitreous [14,16,17]. Retinal tufts are thought to be either focal ERMs or small elevations of retinal tissue which have been termed subclinical hamartomas, due to their small size but have similar histopathologic origin, from glial cells [12,17].…”

“…Studies which have used SD-OCT imaging in patients with NF2 have been able to characterize retinal findings in greater detail and identify novel retinal abnormalities such as retinal tufts, which are projections of tissue extending from the inner retina into the vitreous [14,16,17]. Retinal tufts are thought to be either focal ERMs or small elevations of retinal tissue which have been termed subclinical hamartomas, due to their small size but have similar histopathologic origin, from glial cells [12,17]. While the presence of retinal tufts has been recognized in small case series [12,17], the frequency of retinal tufts in patients with NF2 has not been studied in larger patient groups.…”

“…Retinal tufts are thought to be either focal ERMs or small elevations of retinal tissue which have been termed subclinical hamartomas, due to their small size but have similar histopathologic origin, from glial cells [12,17]. While the presence of retinal tufts has been recognized in small case series [12,17], the frequency of retinal tufts in patients with NF2 has not been studied in larger patient groups.…”

“…The detection of ocular features can aid in the clinical diagnosis of NF2 and prompt early genetic testing [21,22]. The recent identification of numerous retinal abnormalities by SD-OCT [17], which were previously undetected by fundus photography, suggests that the retinal features of NF2 may be more common than previously thought. They are also more common in more severe NF2 genotypes, an effect captured by a validated genetic severity score for NF2 [14,17,[23][24][25][26][27].…”