Retrospective Natural History Study of -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Variants in the X-linked retinitis pigmentosa GTPase regulator gene ( and, specifically, in its retinal opening reading frame-15 isoform () may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While -related RCDs have been frequently evaluated, the characteristics and progression of -related CD/CRDs are largely unknown. Therefore, the goal of our work was to perform genotype-phenotype correlations specifically in -related CD/CRDs.

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Deficiency.

Mutations in lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understand the pathogenic mechanism in vivo, and provide a model for therapeutic approaches, a knock-out mouse model was genetically and functionally characterized.

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness.

Purpose: Complete congenital stationary night blindness (cCSNB) is an incurable inherited retinal disorder characterized by an ON-bipolar cell (ON-BC) defect. GRM6 mutations are the third most prevalent cause of cCSNB. The Grm6-/- mouse model mimics the human phenotype, showing no b-wave in the electroretinogram (ERG) and a loss of mGluR6 and other proteins of the same cascade at the outer plexiform layer (OPL).

Highly luminescent bis-cyclometalated iridium(III) ethylenediamine complex: synthesis and correlation between the solid state polymorphism and the photophysical properties.

The solvent induced polymorphism observed in a cyclometalated iridium(iii) ethylenediamine ionic complex is a new tool to modulate and enhance emission in the solid crystalline state.