Susanne Kohl

TL;DR: This is the first report of a colour vision disorder caused by defects other than mutations in the cone pigment genes, and implies at least in this instance a common genetic basis for phototransduction in the three different cone photoreceptors of the human retina.

TL;DR: A first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders found evidence that the R283W alleles, which are particularly frequent among patients from Scandinavia and northern Italy, have a common origin.

TL;DR: Using RT-PCR and RACE, the human cDNA homologue, designated CNGB3, was identified and cloned, which encodes an 809 amino acid polypeptide and was present on 11 of 22 disease chromosomes segregating in families.

TL;DR: This work reports the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13, and demonstrates that GNat2 is the third gene implicated in achrom atopsia.

TL;DR: A diagnostic NGS pipeline was developed to identify mutations in 170 genetically and clinically unselected RD patients and found possible dominant de-novo mutations in cases with sporadic RD, which implies consequences for counseling of patients and families.