Author Archives for Lea Scheppke

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

July 20, 2022 3:48 pm Published by Lea Scheppke

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... View Article

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

March 28, 2022 10:45 am Published by Lea Scheppke

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... View Article

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

March 22, 2022 11:31 am Published by Lea Scheppke

Simunovic, Matthew P. MB BChir, PhD, FRANZCO; Hess, Kristina MD; Gillies, Mark C. MBBS, PhD, FRANZCO.  Retina: March 2022 – Volume 42... View Article

Intraretinal pigmented cells in retinal degenerative disease

March 17, 2022 11:08 am Published by Lea Scheppke

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

August 1, 2021 10:10 am Published by Lea Scheppke

Laurenz Pauleikhoff, Tjebo F.C. Heeren, Martin Gliem, Ernest Lim, Daniel Pauleikhoff, Frank G. Holz, Traci Clemons, Konstantinos Balaskas, MACTEL STUDY GROUP,... View Article

Hyperreflectivity on optical coherence tomography in macular telangiectasia type 2

July 22, 2021 11:02 am Published by Lea Scheppke

Tzaridis, Simone MD; Hess, Kristina MD; Heeren, Tjebo F. C. MD; Bonelli, Roberto PhD; Holz, Frank G. MD; Friedlander, Martin... View Article

Morphological characteristics preceding exudative neovascularization secondary to macular telangiectasia type 2

June 24, 2021 10:50 am Published by Lea Scheppke

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)

June 21, 2021 11:28 am Published by Lea Scheppke

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

MacTel Project 2021 Update

April 9, 2021 12:01 pm Published by Lea Scheppke

LOWY MEDICAL RESEARCH INSTITUTE – LMRI This past year has surely been an interesting and challenging one.  We hope that... View Article

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

March 22, 2021 11:45 am Published by Lea Scheppke

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.... View Article