Richard A. Lewis

TL;DR: Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.

TL;DR: BBS5, a novel gene for Bardet-Biedl syndrome is identified and it is shown that this novel protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella.

TL;DR: Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.

TL;DR: No statistically significant association was observed between sequence variants in the ELOVL4 gene and susceptibility to AMD, however, for the detection of modest effects of multiple alleles in a complex disease, the analysis of larger cohorts of patients may be required.

TL;DR: The presence of six potential pathogenic variants in a cohort of 535 AMD patients alone does not provide statistically significant evidence for the association of sequence variation in GPR75 with genetic predisposition to AMD, however, a possible connection between the variants and age related retinal pathology cannot be discarded.