SINGAPORE – A revolutionary new service has emerged at the Singapore National Eye Centre (SNEC) to cater to patients suffering from hereditary eye conditions.

Launched in October 2024, this service, dubbed the Ocular Genetics Service (OGS), stands as the largest of its kind in Southeast Asia, aiming to provide specialized and centralized care for those impacted by inherited retinal and ocular diseases.

Previously, patients faced disjointed care processes, limited access to genetic testing, and insufficient integrated counseling. Dr. Beau Fenner, the clinical director of OGS, highlighted the struggles of patients who frequently received treatment that merely managed symptoms without a clear understanding of the underlying genetic causes.

“Routine and affordable genetic testing has fundamentally transformed our approach; prior to this, many ocular conditions remained misdiagnosed or undiagnosed,” Dr. Fenner, originally from Australia and now based in Singapore, explained. “Patients were often left in the dark about whether their family members, including children, were at risk.”

With the incorporation of genetic testing, the OGS empowers patients with precise genetic diagnoses. This fosters targeted therapeutic interventions and opens up participation in critical clinical trials for new treatments. Patients also access genetic counseling services that clarify inheritance patterns, informing decisions regarding family planning and the potential implications for family members.

"The OGS amalgamates expertise across ophthalmology, genetics, and genetic counseling," said Dr. Fenner. This collaborative approach not only provides tailored diagnostic services and treatment plans but also links Singaporean experts to global research efforts focused on rare genetic eye diseases.

Notably, genetic eye diseases have surged to become the leading cause of blindness among working-age adults in advanced countries, including Singapore, according to SNEC's reports. The center sees over 1,000 outpatient visits annually from patients with monogenic eye conditions, with more than 300 new families diagnosed each year.

Genetic testing offers numerous advantages, especially for young patients at risk of severe multi-system conditions. Take the retinal-renal syndrome, for instance: it typically leads to vision loss in infancy but allows for otherwise normal childhood development until a sudden decline in kidney function during adolescence. “Thanks to early genetic diagnosis, our patients can be monitored by kidney specialists long before kidney issues arise, enabling proactive management,” Dr. Fenner noted.

Furthermore, the service identifies relatives who may also be at risk of genetic conditions, providing essential information for individuals of childbearing age who want to understand their chances of passing on conditions that could result in blindness.

OGS collaborates with institutions like KK Women’s and Children’s Hospital to assist families in exploring reproductive alternatives, including IVF with pre-implantation genetic diagnosis and prenatal testing.

In addition to genetic services, OGS also connects new families to support groups, resources, and psychosocial services to help them cope with the emotional and practical challenges posed by managing a genetic condition.

Moreover, OGS is spearheading the development of new treatments specifically targeting diseases prevalent in Singapore, with the hope of restoring vision for certain patients. Dr. Fenner emphasized the importance of a home-grown approach, noting that therapies designed for other populations might not be effective for Singaporeans due to genetic differences.

A compelling case highlighting the importance of this service is that of 4-year-old Elliot Koh, diagnosed at barely four months old with Leber congenital amaurosis (LCA), rendering him completely blind. Despite LCA being a recessive genetic condition, his family had no previous history of the disease. Elliot’s father was later discovered to be a carrier, revealing the nuances and complexities of genetic conditions.

The Koh family’s journey underlines the critical role of genetic testing, demonstrating how it often captures rare conditions that regular tests miss. After Elliot’s diagnosis, they were informed about a 25% chance of having another child with LCA, which afflicts one in 100,000 individuals.

Participating in ongoing research into inherited retinal diseases, Elliot's family sees value in contributing to data collection, even if a cure remains elusive for their child. “We recognize the importance of research. It may not directly benefit our child, but it could pave the way for future treatments,” his mother, Koh Wei Shi, shared.

Although the chances of a rapid breakthrough are slim, she firmly believes that every contribution counts. By adding their data to the pool, they hope to inspire change for future generations.

The Ocular Genetics Service at SNEC represents a beacon of hope for those grappling with genetic eye conditions, marking a significant step forward in personalized care and research in Southeast Asia.