PIKFYVE

Investigating the Role of PIKFYVE in the Retinal Pigment Epithelium

ARVO conference abstract on PIKFYVE-related retinal disease mechanisms in retinal pigment epithelium

ehsan-misaghi
Genetic Variants in PIKFYVE: A Review of Ocular Phenotypes. featured image

Genetic Variants in PIKFYVE: A Review of Ocular Phenotypes.

Many studies have identified disease-causing variants of PIKFYVE in ocular tissues; however, a comprehensive review of these variants and their ocular phenotypes is lacking. The …

ehsan-misaghi

PIKFYVE: Inherited Retinal Disease Mechanisms and Translational Directions

Mechanistic and clinically aligned research on PIKFYVE-related retinal dystrophy, integrating experimental evidence with translational hypotheses.