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 BucherPublished 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.