Macular telangiectasia Type 2 (MacTel) is an inherited retinal disease following an autosomal dominant pattern with late onset and reduced penetrance. Fluorescence lifetime imaging ophthalmoscopy (FLIO) enhances diagnosis by showing distinct changes in MacTel. This study investigates FLIO-associated changes in clinically unaffected family members.
Eighty-one patients with MacTel (61 ± 12 years), 33 clinically healthy children under age 40 years of these MacTel patients (MacTel-C; 31 ± 6 years), 27 other family members (children over age 40 years, siblings, and parents) and 30 controls were investigated with the Heidelberg FLIO. All subjects underwent multimodal conventional imaging, including optical coherence tomography, blue-light reflectance, fluorescein angiography, and macular pigment imaging.
All 81 patients with MacTel showed typical FLIO patterns. Of the 33 investigated MacTel-C with completely normal eye examinations and conventional imaging, 12 (36%) show FLIO patterns consistent with early MacTel.
Prolonged FLIO lifetimes in the parafoveal area within the short spectral channel, especially temporally, are MacTel-specific. Fluorescence lifetime imaging ophthalmoscopy detects these lifetime patterns in over one-third of clinically unaffected MacTel-C. Although further studies will be necessary to determine the specificity of FLIO, it may help diagnose MacTel before conventional imaging modalities show changes or patients experience visual disturbances. Early detection may facilitate future gene discovery studies and interventional trials.
Fluorescence lifetime imaging ophthalmoscopy is a novel imaging modality that has already proven to be useful in the diagnosis of MacTel. In this study, we investigate the next generation of MacTel family members to determine whether fluorescence lifetime imaging ophthalmoscopy can detect characteristic MacTel abnormalities before patients experience signs or symptoms.
*Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah; and
†Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania.
Reprint requests: Paul S. Bernstein, MD, PhD, Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center University of Utah, 65 Mario Capecchi Drive, Salt Lake City, UT 84132; e-mail: email@example.com
Supported in part by an unrestricted departmental grant from Research to Prevent Blindness and NIH grants EY11600 and EY14800, Lowy Medical Research Institute.
None of the authors has any financial/conflicting interests to disclose.
L. Sauer and A. S. Vitale contributed equally to this manuscript.