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)

Patients with MacTel show distinct clustering of methylation-associated metabolite compared with controls. Of the three homocystinurias, only MMACHC resulted in macular dystrophy, possibly due to distinct compensatory pathways.

Keyphrases

genome wide
dna methylation
optical coherence tomography
diabetic retinopathy
cataract surgery
early onset
copy number
single cell
gene expression
rna seq