To examine the effects of LCA on VDR-RXR interactions, transient transactivation studies were conducted supplementing assays with either wild-type human RXR (pCDNA-RXRWT) or a truncated human RXR mutant lacking the c-terminal AF2 region (pCDNA-RXRAF2). This evidence concerns the gene VDR and Leber congenital amaurosis.