Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
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Inherited eye diseases (IED) are a group of conditions that affect the structure and function of the visual system. These disorders are caused by errors in genes that control the development and wellbeing of the eyes. IED can affect people of all ages and can lead to visual impairment or blindness. Diagnosis typically requires an ophthalmological evaluation and genetic testing.

In a few countries of South America, a sponsored program of genetic testing was organized in 2021, finally giving the chance of having a genetic diagnosis to many patients and families. In Argentina, a group of doctors (ophthalmologists and geneticists) and a patients’ organization joined forces to leverage this program and create a network connecting patients with nearby doctors. More than 700 patients with IED throughout the country had the opportunity to get free genetic testing through this program. ‘Communicating that genetic testing was a key part of the diagnosis was challenging amongst patients that never had access to it before. The accredited USA-based Invitae laboratory helped us reassure patients that their time and contribution were not taken for granted.’, says Dr Patricio Schlottmann, Argentinian ophthalmologist and first author of the paper published in NPJ Genomic Medicine.

The goal of the project was to improve genetic counselling, estimate disease prognosis, inform about other possible body systems at risk, and advise on family planning and available treatment on a personal level; as well as the creation of a national registry of genetically-confirmed patients with IED. “Thanks to this project, patients gained hope and we were able to form strong connections with ophthalmologists and geneticists for the first time”, says Francisco Albarracin, President of Retinosis Pigmentaria Foundation Argentina.

The work of the doctors in Argentina highlights the importance of collaboration and data sharing in the field of medicine. Furthermore, active participation of the patients association was a key asset in the project, acting as a link between patients and doctors. The association was instrumental in spreading awareness about the registry among patients and their families, encouraging individuals to participate and providing them with information about the benefits of genetic testing. They also reached out to doctors in remote areas of the country to ask them to join the project and assist patients in their region. As a result, the project was able to include patients and doctors from 13 out of 23 provinces.

After over a year of testing, the doctors came together to combine and analyse the data at a national level and present it in a peer-reviewed manuscript. A team from Moorfields Eye Hospital (MEH, London, UK) consisting of ophthalmologists specialised in IED and Dr Gavin Arno, a molecular biologist, collaborated on this analysis, verifying the genetic testing results in a case-by-case manner. Many patients were contacted when their results were uncertain, to go over their family, medical, and ophthalmic history. Dr Malena Daich Varela, an Argentinian ophthalmologist currently working at MEH created this bridge and led the analysis.

The investigation revealed that a definitive genetic diagnosis was reached in 59% of the families, a similar percentage to studies alike in the UK and Spain. An interesting finding was that nearly half of the variants found in our cohort were absent from the literature, possibly due to the Latino population being underrepresented in research. The most common IED was retinitis pigmentosa, a condition that causes progressive peripheral vision loss and night blindness. Other less frequent diagnosis were Stargardt disease, early onset severe retinal dystrophy, and Usher syndrome.

By working together and sharing information, this group of doctors created the largest registry of genetically confirmed patients with IED in South America, and the first of its kind for Argentina. This data will serve as a valuable resource for researchers, clinicians, and patients, and will help improve the diagnosis and management of IED in Argentina and beyond. Dr Malena Daich Varela, corresponding author of the paper comments: “This project required significant team effort, with patients, doctors, and laboratory staff working together towards improving patient care. I am truly grateful for the trust of my colleagues and the patients.”

The success of the registry in Argentina demonstrates the power of collaboration and the importance of involving patients in the research process. This collaboration is particularly important for rare diseases like IED, where there is often a lack of information and resources. One of the patients tested in San Luis province reflects on this experience: “The genetic testing program helped us build stronger connections between patients, supporting and motivating each other. I am grateful for the doctors and for God, who is helping vulnerable people with disabilities”.

The project culminated in the paper published in the prestigious journal npj Genomic Medicine, the authors being invited to tell their story #behindthepaper, and Dr Malena Daich Varela receiving the ARVO Early Career Clinician-Scientist Award for her presentation in the Association for Research in Vision and Ophthalmology (ARVO) meeting 2023. The ongoing challenge is keeping the registry up to date, including new patients as they continue to be tested. This will help provide the best possible clinical care for patients, contribute to worldwide registries, and the development of public health policies towards a more equitable access to healthcare.

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