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Article

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.

Scientific reports - 22 Jul 2020

Bonelli Roberto, Woods Sasha M, Ansell Brendan R E, Heeren Tjebo F C, Egan Catherine A, Khan Kamron N, Guymer Robyn, Trombley Jennifer, Friedlander Martin, Bahlo Melanie, Fruttiger Marcus

Abstract excerpt

Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneration leads to central vision loss. The causative disease mechanism is largely unknown, and no treatment is currently available. A previous study found variants in genes associated with glycine-serine metabolism (PSPH, PHGDH and CPS1) to be associated with MacTel, and showed low levels of...

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Identifiers

PMID: 32699277
DOI: 10.1038/s41598-020-69164-y
PMCID: PMC7376024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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