When someone is diagnosed with an inherited sight-loss condition, one of the toughest questions they face is whether anything can be done to stop it. For many people affected by conditions such as Leber Hereditary Optic Neuropathy (LHON), sight loss is sudden, rapid and devastating.
But research is beginning to change that picture. Scientists we’re funding believe they have made discoveries that could make earlier intervention possible.
LHON causes damage to the optic nerve — the structure that carries visual information from the eye to the brain. Once those nerve fibres are lost, they cannot be regrown. For a long time, this has shaped how the condition was understood and treated.
However, research has shown that in some people, vision can partially recover. This suggests that not all cells are lost immediately — some may be severely impaired but still alive.
Read our full interview with Professor Marcela Votruba, and watch the video.
Could earlier intervention make a difference?
Before the optic nerve shows clear signs of degeneration, subtle changes can be detected in the retina, particularly in the retinal ganglion cells that form the optic nerve. Vision may be profoundly reduced, but the biology tells a more hopeful story: in some individuals, surviving cells appear able to recover function.
Professor Marcela Votruba and her team are now investigating why some patients experience partial recovery while others do not, even when they share the same genetic mutation. The answers may lie in how resilient individual cells are, how they produce energy, and how well they cope with stress.
Understanding these mechanisms could open the door to treatments that help preserve function, rather than accept vision loss as inevitable.
Why research funding matters
Progress like this depends on sustained, targeted research.
Early-stage discoveries — such as identifying retinal changes that occur before severe optic nerve damage — often begin with focused project funding.
This kind of support allows researchers to test promising ideas, gather vital evidence, and move closer to treatments that could make a real difference to people living with inherited sight loss.
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