Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.

Abstract

This TULP1 splice-site mutation in homozygotes causes early-onset, severe retinal degeneration involving macular and peripheral cones and rods. The constellation of phenotypic findings suggests that the TULP1 gene product is critically important for normal photoreceptor function and may play a role in retinal development.