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.
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease Kevin Eade, Marin L. Gantner, Joseph A. Hostyk, Takayuki Nagasaki, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Michelle Baldini, Esther W. Lim, Lea Scheppke, Michael I. Dorrell, Carolyn Cai, Evan H. Baugh, Charles J. Wolock, Martina Wallace, Rebecca B. Berlow, David B. Goldstein, Christian M. Metallo, Martin Friedlander & Rando Allikmets. Nature Metabolism 2, 366-377(2021).
Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease Roberto Bonelli, Sasha M. Woods, Brendan R. E. Ansell, Tjebo F. C. Heeren, Catherine A. Egan, Kamron N. Khan, Robyn Guymer, Jennifer Trombley, Martin Friedlander, Melanie Bahlo & Marcus Fruttiger
