Masquerading Disease of Macular Telangiectasia Type 2

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PURPOSE: To identify retinal diseases that mimic macular telangiectasia type 2 (MacTel), categorize these masquerading entities based on multimodal imaging characteristics, and evaluate the diagnostic performance of individual imaging modalities for differentiation from true MacTel. DESIGN: Retrospective, cross-sectional observational study analyzing data from the MacTel Natural History Observation Registry. SUBJECTS: Eyes of patients submitted to the registry with a potential diagnosis of MacTel, which was not confirmed by the central reading center, were included if spectral-domain OCT and fundus autofluorescence (FAF) were available. METHODS: Two independent retina specialists assigned the most likely diagnosis for each eye based on full multimodal imaging, with adjudication by senior graders when required. Diagnoses were grouped into clusters of similar etiology or imaging phenotypes. Discrimination between MacTel and masquerading diseases was tested by calculating the sensitivity of detecting masquerading diseases for each imaging modality. MAIN OUTCOME MEASURES: Frequency of different clusters of masquerading diseases and sensitivity for their detection based on different imaging modalities. RESULTS: Of 172 eyes reviewed, 108 eyes with confirmed pathologic findings were included in the final analysis; 6 eyes were reclassified as true MacTel, and 58 eyes showed no pathologic changes and were therefore excluded. The most frequent MacTel mimickers were vitreomacular interface disorders (29%), large retinal capillary aneurysms (LCAs; 22%), and central serous chorioretinopathy (19%). Optical coherence tomography showed the highest sensitivity in detecting mimicking disease (sensitivity 90%), followed by FAF (81%), fluorescein angiography (77%), and blue-light reflectance (75%), and was poor for color fundus photographs (59%). Intergrader agreement was substantial across all imaging modalities (κ = 0.69-0.78). CONCLUSIONS: Several retinal disorders can closely mimic MacTel, most commonly vitreomacular interface abnormalities and LCAs. Multimodal imaging-particularly OCT and FAF-enables reliable differentiation in most cases. These findings underscore the importance of comprehensive imaging assessment and provide a practical framework for avoiding MacTel misdiagnosis in clinical practice and clinical trials. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

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