Caraline L. Coats

TL;DR: The data suggests that mutations in the CRX gene are associated with photoreceptor degeneration and that the Crx protein is necessary for the maintenance of normal cone and rod function.

TL;DR: Data suggest that the R90W mutation results in a CRX protein with reduced DNA binding and transcriptional regulatory activity and that the subsequent changes in photoreceptor gene expression lead to the very early onset severe visual impairment in LCA.

TL;DR: The mutation analysis revealed a high preponderance of mutations involving or creating cysteine residues, pointing to sites important for the tertiary folding and/or protein function, and highlights several amino acids which may be involved in XLRS1-specific protein-protein interactions.

TL;DR: The unusual association between macular atrophy and BCM is reported resulting from the loss of an approximately 9.5 kb region encompassing the LCR, proximal red gene promoter elements and exon 1 of the red gene.

TL;DR: Cycle-by-cycle recording of small-amplitude flicker-electroretinogram responses is studied and results with robust statistical methods are analyzed to facilitate comparison of results from all laboratories.