Loss of GFAP causes retinal dysplasia and vision impairment
Menachem Viktor Sarusie, Cecilia Rönnbäck, Cathrine Jespersgaard, Sif Baungaard, Yeasmeen Ali, Line Kessel, Søren T. Christensen, Karen Brøndum‐Nielsen, Kjeld Møllgård, Thomas Rosenberg, Lars Allan Larsen, Karen Grønskov
The paper identifies a loss-of-function GFAP variant causing retinal dysplasia and vision impairment in a family, revealing a novel role for GFAP in eye development.
medRxiv · Nov 9, 2022 · PreprintGenetic & Genomic Medicine