‘Genotype-Phenotype correations of patients with ABCA4 mutations seen at the Royal Victoria Eye and Ear Hospital’, Dr. Niamh Wynne

There are an estimated 5000 patients in Ireland suffering from an inherited retinal disease (IRD). The goal of our collaborative study ‘Target 5000’,  through genetic diagnosis, to better enable these 5000 individuals to obtain a clearer understanding of their condition and improved access to potentially life changing therapies.

There are up to 800 people living in Ireland with juvenile onset Stargardts disease, an IRD,  is one of the leading causes of blindness in under 18’s worldwide and causes progressive loss of central vision.

It is most commonly associated with mutations in what is known as the ABCA4 gene. During the course of the Target 5000 study, researchers have identified many people who have mutations in ABCA4, however analysis has shown many of these do not correlate with the established pattern of well characterised Stargardts Disease previously known.

This exciting and important piece of research aims to combine the comprehensive clinical study of a patient’s genotype (from the inherited gene) and phenotype (a genetic reaction to an environment) to represent the full spectrum if ABCA4 disease in Irish patients.

Studies of this type are vital to developing a greater understanding of each syndrome and are crucial to ongoing pursuit of new genetic therapies for inherited conditions.

Dr. Niamh Wynne

Dr. Wynne presenting a poster on her ABCA4 
Study at ARVO 2019
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