Macular Anatomy and Abnormalities in Neurofibromatosis Type 2
Journal Title: Journal of Ophthalmology and Advance Research - Year 2023, Vol 4, Issue 3
Abstract
Purpose: To describe macular anatomy and abnormalities on Spectral-Domain Optical Coherence Tomography (SD-OCT) in a large series of patients with Neurofibromatosis Type 2 (NF2). Methods: Retrospective review of all consecutive patients with NF2. Results: A total of 166 eyes in 83 patients with NF2 were identified from February 2014 to May 2015. Macular SD-OCT was available for 124 eyes (75%). Isolated epiretinal membrane (ERM) was diagnosed in 52% of patients (n=43) with bilateral ERM in 15 cases. ERM was commonly fine (64%), non-retractile (90%), extra-foveolar (90%), discontinuous (78%) and without posterior vitreous detachment (93%). Combined Hamartoma of the Retina and Retinal Pigmented Epithelium (CHRRPE) was seen in 12% of patients (n=10); three of which were bilateral. Additional OCT anomalies identified include Congenital Hypertrophy of Retinal Pigment Epithelium (CHRPE), internal limiting membrane irregularities, inner retinal tufts, serpentine-like extensions into the vitreoretinal interface, focal alterations of inner retinal lamination and infiltration of the posterior vitreous cortex. All retinal anomalies identified suggest pathological involvement of Müller cells. Conclusion: Our series underscores the utility of macular SD-OCT in patients with NF2. While ERM and vitreoretinal interface abnormalities are the most common macular pathology identified in NF2, all SD-OCT pathology suggests Muller cell involvement.
Authors and Affiliations
Mardoche Chetrit1, Nathalie Massamba1,2*, David RP Almeida3, Georges Challe1, Michel Kalamarides4, Valérie Touitou1, Bahram Bodaghi1
Keywords
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- EP ID EP725999
- DOI https://doi.org/10.46889/JOAR.2023.4310
- Views 40
- Downloads 0
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