Optic nerve diseases articles within Nature Communications

Featured

• Article
  28 February 2024 | Open Access

  Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

  People who experience optic neuritis, a cause of potentially serious sudden vision loss, have up to a 50% chance of ultimately being diagnosed with multiple sclerosis. Here, the authors find that genetic information combined with age and sex helps predict risk of future diagnosis of multiple sclerosis.

  • Pavel Loginovic
  • , Feiyi Wang
  •  & Tasanee Braithwaite

• Article
  09 January 2024 | Open Access

  Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

  The molecular and cellular causes of glaucoma are not well understood. Here, the authors integrate GWAS with genetic regulation and single cell expression from multiple eye tissues to identify genes and key cell types that affect glaucoma pathogenesis.

  • Andrew R. Hamel
  • , Wenjun Yan
  •  & Ayellet V. Segrè

• Article
  06 October 2023 | Open Access

  Improving model fairness in image-based computer-aided diagnosis

  Deep learning models can reflect and amplify human bias, potentially resulting inaccurate missed diagnoses. Here, the authors show that by leveraging the marginal pairwise equal opportunity, their model reduces bias in medical image classification by over 35% compared to baseline models, with minimal impact on AUC values.

  • Mingquan Lin
  • , Tianhao Li
  •  & Yifan Peng

• Article
  19 May 2023 | Open Access

  Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank

  Primary open-angle glaucoma is a leading cause of blindness. Here, the authors report higher plasma levels of diglycerides and triglycerides in samples collected prior to diagnosis, particularly in cases presenting with vision loss near fixation.

  • Oana A. Zeleznik
  • , Jae H. Kang
  •  & Louis R. Pasquale

• Article
  10 November 2022 | Open Access

  Maprotiline restores ER homeostasis and rescues neurodegeneration via Histamine Receptor H1 inhibition in retinal ganglion cells

  ER stress is associated with various neurodegenerative diseases. This study found that FDA approved drug, maprotiline, inhibits histamine receptor H1-mediated ER stress and provides significant neuroprotection in mouse glaucoma model.

  • Wei Chen
  • , Pingting Liu
  •  & Yang Hu

• Article
  24 February 2021 | Open Access

  Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

  Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.

  • Puya Gharahkhani
  • , Eric Jorgenson
  •  & Janey L. Wiggs

• Article
  23 May 2017 | Open Access

  Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

  LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1mRNA.

  • Francesca Pasutto
  • , Matthias Zenkel
  •  & Ursula Schlötzer-Schrehardt