Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2

Abstract

<b><i>Introduction:</i></b> This case-control study seeks to systematically characterize the central retinal findings in a large cohort of patients with neurofibromatosis type 2 (NF2) using spectral domain optical coherence tomography (SD-OCT) as well as the examination of the potential use of this technique as a diagnostic tool in NF2. <b><i>Methods:</i></b> Fifty-four patients with an NF2 diagnosis seen in a quaternary national service were age- and gender-matched to 55 controls from the normal population. Two masked assessors categorized SD-OCT images using predefined abnormalities: retinal tufts, epiretinal membrane (ERM) appearance, retinal hamartoma, and foveal contour. Specificity, sensitivity, and positive and negative predictive values were calculated for each retinal abnormality. Trends of retinal abnormalities with NF2 genetic severity groups (1. tissue mosaic; 2A. mild classic; 2B. moderate classic; and 3. severe) were investigated. <b><i>Results:</i></b> We found retinal abnormalities in 26 patients with NF2 (48%) and 2 control patients (4%); retinal tufts were the most common abnormality therein (43%) and were not seen in controls. The specificity and sensitivity of the graded abnormalities on OCT scans in NF2 were 96% and 48%, respectively, with a positive predictive value of 93%. In our cohort, retinal tufts had a specificity of 100%, a sensitivity of 43%, and a positive predictive value of 100%. Retinal hamartomas were seen only in NF2 patients (35% sensitivity and 100% specificity). ERMs had 96% specificity and 13% sensitivity. The proportion of patients with retinal abnormalities increased statistically significantly with NF2 genetic severity; all patients within the 3. severe genetic severity had an abnormal SD-OCT. <b><i>Discussion/Conclusion:</i></b> We present a systematic study of central retinal abnormalities in an NF2 population as seen on SD-OCT imaging. Our results show a high frequency of retinal abnormalities that are readily detected by SD-OCT imaging. The presence of retinal tufts may be a novel marker of NF2 with both high specificity and a positive predictive value for NF2, compared to other well-known ocular features of NF2, and may have a place in the NF2 diagnostic criteria.

Ophthalmic Manifestation in Neurofibromatosis Type 2

“…This percentage appears to be inferior when compared with the recent literature. In a casecontrol study, Emmanouil et al reported retinal tufts as the most common abnormalities of the central retina in 23 patients (43%), principally observed in patients with a severe form and not seen in controls, therefore showing a positive predictive value of 100% [21]. This difference can be explained because most of our patients have a mild form of the disease, as mentioned above.…”