Methylation-associated pathways in Macular Telangiectasia Type 2 and ophthalmologic findings in patients with genetic methylation disorders.

Laurenz J B PauleikhoffVictoria WingertSarah C GrünertClemens LangeLuciana HannibalFelicitas Bucher

Published in: Retina (Philadelphia, Pa.) (2024)

MacTel patients show distinct clustering of MAM compared to controls. Of the three homocystinurias, only MMACHC resulted in macular dystrophy, possibly due to distinct compensatory pathways.

Keyphrases

genome wide
end stage renal disease
optical coherence tomography
diabetic retinopathy
dna methylation
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
gene expression
single cell
age related macular degeneration