Phenotype variations of retinal dystrophies caused by mutations in the <i><scp>RLBP</scp>1</i> gene

Abstract

The fact that different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein. Identifying new mutations and comparing the different phenotypes may help to better understand the function of the protein and the consequences in pathological changes that involve RPE and choroid.