Misdiagnoses of Macular Telangiectasia Common, May Delay Care

Multimodal imaging techniques such as fundus autofluorescence and fluorescein angiography may help catch cases of MacTel that may be missed on OCT or fundus exam alone. Click image to enlarge. Timely and accurate diagnosis of macular telangiectasia type 2 (MacTel) has become more urgent with the launch of the first FDA-approved treatment option, revakinagene taroretcel-lwey (Encelto), an intravitreal implant. Despite this, a recent study found that misdiagnoses are not uncommon, and they identified several factors influencing the probability of a patient receiving an incorrect diagnosis. The findings, described below, were reported in Retina.The researchers performed a retrospective analysis on 288 patients with a confirmed diagnosis of MacTel, who were categorized into three groups: correct diagnosis, misdiagnosis and incidental finding. Clinical and demographic data, including best-corrected visual acuity, symptoms and prior treatments, were recorded. Misdiagnoses were categorized, and predictors were analyzed using mixed-effect models.The data showed that the majority of patients in the study (60.4%) were correctly diagnosed, though more than a third (35.8%) were misdiagnosed and another 3.8% were diagnosed incidentally. The most frequent misdiagnoses were macular hole (17.3%), unspecified maculopathy (12.5%) and age-related macular degeneration (AMD; 12.5%).The most frequent complaint from MacTel patients was a subjectively reduced visual acuity. “Interestingly,” the authors wrote in their paper, “patients frequently report central visual disturbances, despite the disease typically manifesting temporally to the fovea first.” They noted, “This may reflect a ‘placeholder’ symptom because of the lack of more precise patient-reported descriptions.”It’s been shown that early symptoms of MacTel can resemble those of other more common eye conditions, such as AMD and diabetic retinopathy. In this study, the presence of subjective glare sensitivity stood out as a symptom increasing the likelihood of misdiagnosis, as it’s a common finding in multiple retinal (AMD, retinal dystrophies) and anterior segment (corneal diseases, cataract, dry eye disease, blepharitis) diseases, as well as glaucoma and uveitis.Subjective glare sensitivity may lead clinicians “on a route toward diagnoses more frequently associated with this symptom, which may be more easily addressable than MacTel,” the authors explained in their paper. “Younger age at symptom onset, however, may have the opposite effect (i.e., limiting the probability of differential diagnoses linked to older age, such as AMD).”They noted that they did not use standardized questionnaires to evaluate symptoms, which could introduce differences in how questions were worded and may have influenced patients’ responses.“Our findings highlight the importance of comprehensive examinations for every patient, including pupil dilation and multimodal imaging,” the authors wrote. Although OCT devices are a standard of care in eye care, they may not be routinely used on every patient with nonspecific symptoms, the authors added in their paper. Fundus autofluorescence and fluorescein angiography are still considered supplemental imaging, and this limited use of multimodal imaging techniques may account for some undiagnosed MacTel cases. Early multimodal imaging and clinician education remain key to timely diagnosis and better management.To prevent misdiagnoses, eye doctors “need to remain vigilant, consider a variety of retinal conditions and use multimodal imaging,” the authors concluded in their paper. “Advances in self-supervised learning may have the potential to further improve the accuracy of MacTel diagnosis and classification.”Click here for the journal source. Raming K, Rodriguez G, Luis J, et al. Frequency of misdiagnoses and associated risk factors in macular telangiectasia type 2. Retina. February 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.