Abstract
PURPOSE: Macular Telangiectasia Type 2 (MacTel) is an uncommon, late-onset complex retinal disease that leads to central vision loss. No causative gene(s) have been identified so far, resulting in a challenging clinical diagnostic dilemma because retinal changes of early stages are often subtle. The objective of this study was to investigate the benefit of fluorescence lifetime imaging ophthalmoscopy (FLIO) for retinal imaging in patients with MacTel. DESIGN: Cross-sectional study from a tertiary-care retinal referral practice. SUBJECTS AND CONTROLS: 42 eyes of 21 patients (mean age 60.5±13.3 years) with MacTel as well as an age-matched healthy control group (42 eyes of 25 subjects, mean age 60.8±13.4 years). METHODS: A 30° retinal field centered at the fovea was investigated using FLIO. This camera is based on a Heidelberg Engineering Spectralis system. Fundus autofluorescence (FAF) decays were detected in short (498-560 nm, SSC) and long (560-720 nm, LSC) spectral channels. The mean fluorescence lifetime, τ(m), was calculated from a 3-exponential approximation of the FAF decays. For MacTel patients, macular pigment (MP), OCT, blue light reflectance, fluorescein angiography, as well as fundus photography, were also recorded. MAIN OUTCOME MEASURES: Mean FAF lifetime (τ(m)) images. RESULTS: FLIO of MacTel patients shows a unique pattern of prolonged τ(m) at the temporal side of the fovea in patients with MacTel in the "MacTel area" within 5-6° of the foveal center. In early stages, this region appears crescent-shaped, while advanced stages show a ring-like pattern. This pattern corresponds well with other imaging modalities and gives an especially high contrast of the affected region even in minimally affected individuals. Additionally, FLIO provides a novel means to monitor the abnormal MP distribution. In one case, FLIO showed changes suggestive of MacTel within a clinically normal parent of two MacTel patients. CONCLUSIONS: FLIO detects retinal changes in patients with MacTel with high contrast, presenting a distinctive signature that is a characteristic finding of the disease. The non-invasive properties of this novel imaging modality provide a valuable addition to clinical assessment of early changes in the disease that could lead to more accurate diagnosis of MacTel.