Joseph Gleeson and colleagues show that Ahi1 is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with Nphp1. They further show that a missense allele of AHI1 in humans modifies risk of retinal degeneration among individuals with nephronophthisis.
- Carrie M Louie
- Gianluca Caridi
- Joseph G Gleeson
