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A joint study by the SJD Barcelona Children's Hospital and Bellvitge University Hospital has found that two people with the same genetic defect can experience very different forms of a hereditary eye condition.
This discovery, recently published in the Genes magazine, offers a new perspective on personalised treatments for patients with inherited retinal dystrophy.
Inherited retinal dystrophy is a disease that affects photoreceptors, the cells in the retina responsible for detecting light and sending visual information to the brain. Mutations in the CEP290 gene, which is essential for proper functioning of these photoreceptors, can cause severe visual impairment or complete vision loss.
The study presents the case of two siblings with a mutation in the CEP290 gene who, despite sharing the same genetic defect, have experienced very different forms of the disease. The youngest of the siblings suffers from severe, progressive retinal dystrophy, and has suffered from significant loss of vision from a very young age. The older sibling, however, has experienced a much slower onset of the disease, and her vision has remained functional even after 50 years of age.
The study presents the case of two siblings with a mutation in the CEP290 gene who have developed very different forms of the disease
According to Dr Anna Esteve, Consultant Geneticist at the Bellvitge University Hospital and primary author of the study, ‘These differences could be the result of how the body processes the genetic mutation, interactions with other genes, or environmental factors’.
‘This variability underscores the importance of adapting the treatment and follow-up of each patient to their particular needs,’ explains Dr Jaume Català, Specialist at the Ophthalmology Department at the SJD Barcelona Children's Hospital and Coordinator of the Inherited Retinal Dystrophy Unit SJD-HUB. ‘Plus, these differences have to be considered when reporting prognoses and establishing a personalised treatment and monitoring plan for each case’, adds Dr Estefania Cobos, Specialist at the Ophthalmology Department of the Bellvitge University Hospital and Coordinator of the Unit.
The study points to innovative therapies like antisense oligonucleotides (ASOs) or gene editing as possible treatment options for this disease. ‘These new tools could pave the way to therapies where there were no other options beforehand’, highlights Dr Cinthia Aguilera, Consultant Specialist of the unit.
Shared clinical leadership and research
This research project was conducted within the framework of the SJD-Bellvitge Inherited Retinal Dystrophy Unit, a leading regional programme that currently treats more than 1,000 adult and pediatric patients. The unit is a multidisciplinary collaborative effort, combining ophthalmology, clinical genetics and biomedical research together to create a highly specialised healthcare service offering for patients throughout the region.
In recent years, this unit has been a key player in the use of gene therapies, such as the first Luxturna treatment, performed at the SJD Barcelona Children's Hospital in 2020 on a 12-year-old girl, or the implementation of treatments in adult patients at the Bellvitge University Hospital in 2021.
This discovery reinforces this unit's leading role in the research and treatment of inherited retinal diseases, paving the way to a future where every patient can receive treatment that is fully adapted to their specific needs.
Study authors from the SJD-Bellvitge Retinal Dystrophy Unit
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