...John J. Willoughby; Abbie M. Jensen ABSTRACT Stargardt disease (STGD), the leading cause of inherited childhood blindness, is primarily caused by mutations in the ABCA4 gene; yet, the underlying mechanisms of photoreceptor degeneration remain elusive, partly due to limitations in existing animal...

...Tylor R. Lewis; Sebastien Phan; Keun-Young Kim; Isha Jha; Carson M. Castillo; Jin-Dong Ding; Benjamin S. Sajdak; Dana K. Merriman; Mark H. Ellisman; Vadim Y. Arshavsky ABSTRACT Many inherited visual diseases arise from mutations that affect the structure and function of photoreceptor cells. In some...

...Amanda Miles; Clarke Blair; Andrew Emili; Vincent Tropepe ABSTRACT Blindness associated with Usher syndrome type 1 (USH1) is typically characterized as rod photoreceptor degeneration, followed by secondary loss of cones. The mechanisms leading to blindness are unknown because most genetic mouse...

... photoreceptor death in the retina and are often associated with genetic mutations, including those in the prominin-1 ( Prom1 ) gene. Prom1 -knockout (KO) mice recapitulate key features of these diseases including light-dependent retinal degeneration and constriction of retinal blood vessels. The mechanisms...

... disrupts the development and function of the central nervous system (CNS). Here, we investigated the cellular and molecular consequences of ATRIP deficiency in different cell populations of the developing murine neural retina. We discovered that conditional inactivation of Atrip in photoreceptor neurons...

...Shobi Veleri; Csilla H. Lazar; Bo Chang; Paul A. Sieving; Eyal Banin; Anand Swaroop Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes...