Insights into Nystagmus: Laying the Foundation for Future Treatments

May 1st, 2024 – Maj-Britt Hölzel’s doctoral research reveals the mechanism behind congenital nystagmus, or eye tremors, for the first time. “So far, everyone was searching in the wrong place.”

Nystagmus is an eye condition where the eyes move rapidly and uncontrollably from side to side and occurs in around 1 out of 700 people. While those who are born with it don’t necessarily see the world move, they still struggle with reduced visual acuity and keeping eye contact during social exchanges.

Hölzel’s research has contributed to an important finding: “It was always thought that the cause was a problem in the brain’s cerebellum. We’ve shown that this isn’t the case and the cause is actually located in the retina of the eye. That’s an entirely different approach to the problem.”, Kamermans, group leader and Hölzel’s supervisor, explains.

A causal link

Through a series of experiments Hölzel and colleagues were the first to show a causal link between the condition and a genetic mutation, affecting a protein that is only found in the retina. The retina consists of five layers of nerve cells, each communicating with one another through special connecting points known as synapses. The mutated protein stops those synapses from functioning properly, leading to nystagmus.

Hölzel’s work has laid the foundation for future research into potential treatments. “We’ve started looking into how we can recover the mutation but it remains a complicated problem. If it has always gone wrong, correcting the mutation might not be enough to restore symptoms such as visual acuity. It might be closely tied to development, meaning we’d need to start treating people at younger ages.”

Maj-Britt Hölzel: The retinal origin of congenital nystagmus. Supervisors: Prof. dr. M. Kamermans and dr. M.H.C Howlett defence will take place on Wednesday 1 May at 13.00 in the Agnietenkapel (Oudezijds Voorburgwal 229-231), Amsterdam.