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iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function

Eade KT, Ansell BRE, Giles S, Fallon R, Harkins-Perry S, Nagasaki T, Tzaridis S, Wallace M, Mills EA, Farashi S, Johnson A, Sauer L, Hart B, Diaz-Rubio ME, Bahlo M, Metallo C, Allikmets R, Gantner ML, Bernstein PS, Friedlander M.The Journal of Clinical Investigation, 01 May 2023, 133(9):e163771. DOI: 10.1172/jci163771 .

Macular Telangiectasia Type 2: A Classification System Using Mulit-Modal Imaging MacTel Project Report Number 10

Emily Y. Chew, Tunde Peto, Traci E. Clemons, Ferenc B. Sallo, Daniel Pauleikhoff, Irene Leung, Glenn J. Jaffe, Tjebo F.C. Heeren, Catherine A. Egan, Peter Charbel Issa, Konstantinos Balaskas, Frank G. Holz, Alain Gaudric, Alan C. Bird, Martin Friedlander, MacTel Research Group. https://doi.org/10.1016/j.xops.2022.100261

Description of a patient cohort with Hereditary Sensory Neuropathy Type 1 without retinal disease Macular Telangiectasia type 2 – implications for retinal screening in HSN1

Filipa Gomes Rodrigues, Menelaos Pipis, Tjebo F C Heeren, Marcus Fruttiger, Mari Gantner, Sandra Vermeirsch, Mali Okada, Martin Friedlander, Mary M Reilly, Catherine Egan. J Peripher Nerv Syst. 2022 Jul 15. doi: 10.1111/jns.12508.

Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids

Eric D Thomas, Andrew E Timms, Sarah Giles, Sarah Harkins-Perry, Pin Lyu, Thanh Hoang, Jiang Qian, Victoria E Jackson, Melanie Bahlo, Seth Blackshaw, Martin Friedlander, Kevin Eade, Timothy J Cherry. Dev Cell. 2022 Mar 28;57(6):820-836.e6. doi: 10.1016/j.devcel.2022.02.018. Epub 2022 Mar 17.

Impairments in Cone Pigment Regeneration and Absolute Threshold in Macular Telangiectasia Type 2

Simunovic, Matthew P. MB BChir, PhD, FRANZCO; Hess, Kristina MD; Gillies, Mark C. MBBS, PhD, FRANZCO. Retina: March 2022 - Volume 42 - Issue 3 - p 569-575 doi: 10.1097/IAE.0000000000003328

Intraretinal pigmented cells in retinal degenerative disease

Marina Yasvoina, Qian Yang, Sasha M Woods, Tjebo Heeren, Grant M. Comer, Catherine A. Egan, Marcus Fruttiger. British Journal of Ophthalmology Published Online First: 17 March 2022. doi: 10.1136/bjophthalmol-2021-320392

Fundus Autofluorescence Imaging in Macular Telangiectasia Type 2: MacTel Study Report Number 9

Laurenz Pauleikhoff, Tjebo F.C. Heeren, Martin Gliem, Ernest Lim, Daniel Pauleikhoff, Frank G. Holz, Traci Clemons, Konstantinos Balaskas, MACTEL STUDY GROUP, Catherine A. Egan, Peter Charbel Issa. American Journal of Ophthalmology (228):27-34, Aug 1, 2021. DOI:https://doi.org/10.1016/j.ajo.2021.03.022

Hyperreflectivity on optical coherence tomography in macular telangiectasia type 2

Tzaridis, Simone MD; Hess, Kristina MD; Heeren, Tjebo F. C. MD; Bonelli, Roberto PhD; Holz, Frank G. MD; Friedlander, Martin MD, PhD. Retina: July 2021 - Volume 41 - Issue 7 - p 1428-1437 doi: 10.1097/IAE.0000000000003111

Morphological characteristics preceding exudative neovascularization secondary to macular telangiectasia type 2

K Hess, PC Issa, FG Holz, S Tzaridis. British Journal of Ophthalmology. Published Online First: 24 June 2021. doi: 10.1136/bjophthalmol-2020-318470

Longitudinal Fluorescence Lifetime Imaging Ophthalmoscopy Analysis in Patients with Macular Telangiectasia type 2 (MacTel)

Sauer, Lydia MD; Vitale, Alexandra S. BS; Modersitzki, Natalie K.; Bernstein, Paul S. MD, PhD. Retina: July 2021 41(7):1416-1427.

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