Frequency of misdiagnoses and associated risk factors in Macular Telangiectasia Type 2.

PURPOSE: To analyze the frequency of misdiagnoses in Macular Telangiectasia Type 2 (MacTel) and to investigate factors influencing the probability of receiving an incorrect diagnosis.

METHODS: A retrospective analysis of 288 patients with confirmed diagnosis of MacTel from the Natural History Observation Registry at the University Eye Hospital Bonn was performed. Patients were grouped as follows: Correct diagnosis of MacTel, misdiagnosis, incidental finding. Clinical and demographic data, including best-corrected visual acuity, symptoms, prior treatments, were recorded. Misdiagnoses were categorized, and predictors were analyzed using mixed effect models.

RESULTS: Of 288 patients, 174 (60.4%) were correctly diagnosed, 103 (35.8%) were misdiagnosed, and 11 (3.8%) diagnosed incidentally. Misdiagnoses included macular hole (17.3%), maculopathy (12.5%), and AMD (12.5%). Mean age at symptom onset was 54.7 (± 9.8 years); mean time to correct diagnosis was 38.5 ± 50.3 months, decreasing from 115 months (2000-2005) to 5.9 months (after 2020). Younger age at symptom onset reduced the probability of misdiagnosis (odds-ratio 0.96, 95% CI: 0.94-0.98), subjective glare sensitivity increased misdiagnosis probability (OR 2.01, 95% CI: 1.14-3.55).

CONCLUSIONS: Misdiagnoses of MacTel are common and may delay care. Improved awareness and imaging have shortened these delays. Early multimodal imaging and clinician education remain key to timely diagnosis and better management.

PMID: 40953350