Retinal imaging in Stargardt disease v1.0

  • Research type

    Research Study

  • Full title

    Retinal imaging in individuals and families affected by Stargardt disease

  • IRAS ID

    367015

  • Contact name

    Louise Terry

  • Contact email

    TerryL1@cardiff.ac.uk

  • Sponsor organisation

    Cardiff University

  • Duration of Study in the UK

    2 years, 5 months, 26 days

  • Research summary

    Stargardt disease is the most common inherited eye condition affecting the macula, the part of the light-sensitive retina responsible for central vision (akin to the film in a camera). It typically starts to affect vision in adolescence, and gets progressively worse, with no treatment options available currently. It is predominantly caused by a mutation of the ABCA4 gene, and is recessive, meaning that both parents will be carriers for a child to develop the condition. Within the retina are light-absorbing visual pigments, which constantly regenerate following exposure to light. In Stargardt disease, this regeneration is slowed, resulting in a build-up of toxic waste products, causing the macula to degenerate over time.
    Imaging retinal densitometry is a novel technique used to measure the regeneration rate of the visual pigments in the macula, giving an insight into how well the retina functions. The device was co-developed by Cardiff University and is the only one of its kind in the world. This technique is objective, not requiring a response from the patient, and provides detailed retinal function maps.
    By studying the visual pigment maps from densitometry and comparing them to images of the macula taken with established techniques, we aim to understand more about how Stargardt disease affects retinal function, and how this changes with disease progression, over an 18-month period. We will also explore potential subtle retinal function changes in carriers of the gene mutation (biological parents of those affected), to understand more about the disease process.
    The study is open to people with or without Stargardt disease, and people with a biological child with Stargardt disease. All data collection will take place at the School of Optometry and Vision Sciences, Cardiff University. The study is funded by the Macular Society, facilitated by a Daphne Jackson Trust Fellowship.

  • REC name

    London - Harrow Research Ethics Committee

  • REC reference

    25/PR/1740

  • Date of REC Opinion

    8 Jan 2026

  • REC opinion

    Further Information Favourable Opinion