Article
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry.
Ophthalmic genetics - 1 Feb 2022
Milanowski Piotr, Kosior-Jarecka Ewa, Łukasik Urszula, Wróbel-Dudzińska Dominika, Milanowska Joanna, Khor Chiea Chuen, Aung Tin, Kocki Janusz, Żarnowski Tomasz
Abstract excerpt
BACKGROUND: Glaucomatous optic nerve damage is caused by selective death of retinal ganglion cells (RGCs). Another condition with underlying loss of RGCs is autosomal dominant optic atrophy (ADOA). Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical resemblance between the two diseases make genes involved in mitochondrial fusion good candidates as...
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