Vitreomacular Interface Abnormalities, Retinal Capillary Aneurysms Common Masqueraders of MacTel

Type 2 macular telangiectasia is a rare disease that causes leaking of the blood vessels around the fovea, leading to a loss of central vision. It is most common in middle-aged and elderly people. This macular OCT shows RPE disruption and an abnormal foveal contour with ILM drape, a pathognomonic finding in MacTel type 2. Photo: Sydney Gross, OD. Click image to enlarge. An international group of researchers (Germany, UK, Northern Ireland, US)  identified several retinal diseases that are easily mistaken for macular telangiectasia type 2 (MacTel) and found that OCT was the best imaging modality for distinguishing these conditions.The retrospective cross-sectional study, published recently in Ophthalmology Retina, analyzed data from the MacTel Natural History Observation Registry to characterize diseases initially suspected to be MacTel but later ruled out by a centralized reading center. Investigators reviewed 108 eyes from 86 patients with a potential MacTel diagnosis. The total patient cohort was, on average, 59 years old, 58% were female and 10% had diabetes.Throughout the research process, the authors explained, “two independent retina specialists assigned the most likely diagnosis for each eye based on full multimodal imaging, with adjudication by senior graders when required.” They then grouped the diagnoses into clusters based on shared imaging features or underlying disease mechanisms.Vitreomacular interface disorders proved to be most commonly mistaken for MacTel, at 29% of cases. Large retinal capillary aneurysms represented 22% of cases, followed by central serous chorioretinopathy at 19%. Age-related macular degeneration and cystoid macular edema each accounted for 7% of cases, while inherited retinal diseases represented 6%. The remaining 8% included diabetic retinopathy, ellipsoid zone loss “of unknown origin,” macular coloboma and idiopathic retinal pigment epithelium atrophy.Among the imaging modalities used, OCT demonstrated the highest sensitivity for detecting MacTel-masquerading diseases, at 90%, compared to fundus autofluorescence (81%), fluorescein angiography (77%), blue-light reflectance (75%), infrared reflectance (72%) and color fundus photography (59%). In addition, OCT, fundus autofluorescence and blue-light reflectance all significantly outperformed color fundus photography. Intergrader agreement was substantial across all imaging methods.“Multimodal imaging—particularly OCT and FAF—enables accurate differentiation in most cases,” wrote the authors. They added that MacTel mimickers typically reproduce only one hallmark of the disease, whereas true MacTel often combines neurodegenerative, vascular and macular pigment abnormalities. The authors suggested that requiring two or three characteristic findings across different imaging modalities could improve diagnostic accuracy while reducing false-positive diagnoses.The authors acknowledged that the retrospective registry design and inclusion of only diagnostically challenging cases “may have introduced selection bias.” However, they concluded that “applying this algorithm to OCT images would be worthwhile” regardless because it still successfully distinguished MacTel from similar retinal disorders and may help establish standardized diagnostic criteria as new treatments become available.Click here for the journal source. Pauleikhoff L, Issa PC, Heeren TFC, et al. Masquerading disease of macular telangiectasia type 2 – MacTel Project Report No 11. Ophthalmology Retina. June 23, 2026. [Epub ahead of print]. This article was developed by the editorial staff in conjunction with experts in the field. In the process, AI may have been among the editorial tools used to meet the goals of human editors, who approved all content.