Peter Kannu

Conference

A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational family

Abstract on our ophthalmology-led diagnosis and study of COL4A1 vasculopathy enabled by functional assays and computational methods

ehsan-misaghi
•
Read more
Conference

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
•
Read more
Genetic Variants in PIKFYVE: A Review of Ocular Phenotypes. featured image
*Genetic Variation

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
•
Read more
Presentation

Investigating the Role of PIKFYVE in the Retinal Pigment Epithelium

Research presentation on PIKFYVE and retinal pigment epithelium biology in inherited retinal disease

ehsan-misaghi
•
Read more