A joint study by Hospital de Bellvitge and Hospital Sant Joan de Déu has confirmed that two people with the same genetic defect can experience very different forms of a hereditary eye disease. This discovery, recently published in the journal Genes, opens new perspectives for designing more personalized treatments for patients with hereditary retinal dystrophy.
Hereditary retinal dystrophy is a disease that affects photoreceptors, the retinal cells responsible for capturing light and transmitting visual information to the brain. Alterations in the CEP290 gene, which is essential for the proper functioning of these photoreceptors, can lead to complete vision loss or severe visual impairments.
The study presents the case of two siblings with variants in the CEP290 gene who, despite sharing the same genetic defect, have developed very different forms of the disease. The younger brother suffers from severe and progressive retinal dystrophy, experiencing significant vision loss from an early age. In contrast, the older sister has a much slower disease progression and retains functional vision even beyond the age of 50.
According to Dr. Anna Esteve, genetic counsellor at Hospital de Bellvitge and lead author of the study, "these differences could be due to how the body processes genetic variants, interactions with other genes, or environmental factors."
"This variability reminds us of the need to tailor follow-ups and treatments to the unique needs of each patient," explains Dr. Jaume Català, specialist in the Ophthalmology Service at Hospital Sant Joan de Déu and coordinator of the Hereditary Retinal Dystrophies Unit at HUB-SJD. "Moreover, these differences must be considered when informing prognosis and establishing personalized monitoring for each case," adds Dr. Estefania Cobos, ophthalmology specialist at Bellvitge and co-coordinator of the same unit.
Innovative Therapies for Retinal Dystrophy
The study highlights innovative therapies, such as antisense oligonucleotides (ASOs) and gene editing, as potential treatment options for this disease. "These new tools could open doors to therapeutic options where none were previously available," emphasizes Dr. Cinthia Aguilera, a specialist in the unit.
A Collaborative Clinical and Research Effort
This research was conducted within the framework of the Bellvitge-Sant Joan de Déu Hereditary Retinal Dystrophies Unit, a nationally recognized centre (CSUR) that currently treats over 1,000 adult and paediatric patients. The unit benefits from a multidisciplinary collaboration integrating ophthalmology, clinical genetics, and biomedical research, providing highly specialized care to patients across Spain.
In recent years, this unit has been at the forefront of gene therapy, including Spain's first Luxturna treatment in 2020 at Sant Joan de Déu, administered to a 12-year-old girl, and the implementation of treatments for adults at Bellvitge since 2021.
This discovery strengthens the unit’s leadership in the research and treatment of hereditary retinal diseases, paving the way for a future where each patient can receive treatment tailored to their specific needs.
Bibliographic reference
Esteve-Garcia, A, et al. Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype. Genes, Desembre 2024. DOI: 10.3390/genes15121584