Unique retinal signaling defect in GNB5-related disease.

Zhuo ShaoAnupreet TumberJason MaynesErika TavaresPeter KannuElise HeonAjoy Vincent

Published in: Documenta ophthalmologica. Advances in ophthalmology (2019)

This report identifies for the first time a unique retinopathy associated with biallelic mutations in GNB5. The observed phenotype is consistent with a dual retinal signaling defect reminiscent of features of bradyopsia and rod ON-bipolar dysfunction.

Keyphrases

optical coherence tomography
diabetic retinopathy
optic nerve
oxidative stress
genome wide
intellectual disability
bipolar disorder
gene expression
dna methylation
autism spectrum disorder