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Imaging and Genetic Data Integration Uncovers Retinal Disease Trajectories

Year: 2025

Type: article

Abstract: Macular Telangiectasia type II (MacTel) is a rare retinal degenerative disease that results in progressive vision loss. By applying trajectory inference on clinical phenotypic data taken from patients with MacTel, we identify two trajectories with distinct phenotypic characteristics. We also find a SNP significantly associated with one of the two trajectories.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.17344961

Authors: Christian, Anderson, Scott, Liam, Bahlo, Melanie, Scheppke, Lea, Tzaridis, Simone, Friedlander, Martin, Bonelli, Roberto

Institutions: The Lowy Medical Research Institute, Walter and Eliza Hall Institute of Medical Research, Scripps Research Institute, University of Bonn

Language: English

Topic: Retinal Diseases and Treatments

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7090322562

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