A novel RLBP1 gene mutation associated to a flecked retina syndrome.

Mohamad IssaGeorges SukkariehSebastien BruneauRamin Tadayoni

Published in: Retinal cases & brief reports (2024)

Flecked retina syndromes and other genetic retinal diseases have a complex genotype-phenotype relation and need further research for their pathophysiology to be fully understood.

Keyphrases

diabetic retinopathy
optic nerve
optical coherence tomography
genome wide
case report
copy number
gene expression