Don't Eat Me

Around one in 10,000 children in the UK are born with Stargardt disease – the leading cause of inherited childhood blindness. Flaws in the ABCA4 gene are responsible, causing light-detecting cells in the eye to deteriorate. Researchers investigate how using mutant zebrafish that lack the fish equivalents of this gene. Fluorescent microscopy revealed that special structures in these light-detecting cells called outer segments were deformed and elongated in mutants. It also uncovered the location of active ABCA4 in healthy zebrafish eyes (pictured, green), namely, in stripes along the outer segments (red). Outer segments are normally shed and replaced, with old parts ‘eaten’ by specialised tissue called the retinal pigmented epithelium. In mutants, this process was reduced and the ‘eat me’ signal on outer segments was disrupted. These insights help unpick how Stargardt disease causes blindness in humans.

Written by Lux Fatimathas

Lux Fatimathas

Writer

Having pursued science through a career in research, communications and publishing, she is currently a writer and editor for a healthcare marketing agency and also juggles freelance science writing.

• Image from work by John J. Willoughby and Abbie M. Jensen
• Biology Department, University of Massachusetts, Amherst, MA, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in Disease Models & Mechanisms, July 2024