Singapore National Eye Centre (SNEC) launches the Ocular Genetics Service (OGS), a dedicated service for diagnosing and managing inherited retinal and ocular conditions. OGS provides specialized care, genetic testing, and counselling, aiming to improve outcomes for patients with these debilitating diseases.
Four-year-old Elliot Koh, diagnosed with Leber congenital amaurosis (LCA), is being seen at the Ocular Genetics Service (OGS) at the Singapore National Eye Centre (SNEC). Established in October 2024, OGS is the largest specialized service of its kind in Southeast Asia, providing a centralized approach to diagnosing and managing inherited retinal and ocular conditions. Before OGS, patients faced fragmented care, limited access to genetic testing, and a lack of integrated counselling.
Treatment often focused on managing symptoms without addressing the underlying genetic cause. With the availability of routine and affordable genetic testing, patients now receive precise diagnoses, enabling targeted interventions and participation in clinical trials. They also receive genetic counselling, clarifying inheritance patterns and implications for family members and future family planning. OGS consolidates expertise in ophthalmology, genetics, and genetic counselling, offering tailored treatment plans and connecting Singapore to global efforts in studying rare genetic eye diseases.Genetic eye diseases are the primary cause of blindness among working-age adults in developed nations like Singapore. SNEC reports over 1,000 outpatient visits annually for patients with monogenic eye conditions, with over 300 new families diagnosed each year. Early diagnosis via genetic testing is crucial, particularly for young patients with potentially life-threatening multi-system conditions like retinal-renal syndrome. This syndrome initially causes vision loss in infancy and later progresses to rapid kidney function decline and eventual kidney failure. Early genetic diagnosis allows for intervention by kidney specialists, slowing disease progression.Genetic testing also empowers individuals of child-bearing age to make informed decisions about family planning. OGS collaborates with other hospitals, like KK Women’s and Children’s Hospital, to offer reproductive options like IVF with pre-implantation genetic testing and prenatal testing. To support newly diagnosed families, OGS provides counselling, explaining the condition, inheritance patterns, and implications. Families are also connected with support groups and resources, receiving psychosocial support to navigate the emotional and practical challenges of managing a genetic condition. OGS is also developing new treatments for blindness-causing genetic diseases specific to and common in Singapore, with the potential to restore normal sight in some cases
GENETICS EYE DISEASES BLINDNESS SINGAPORE TREATMENT DIAGNOSIS COUNSELLING Ocular Genetics Service Singapore National Eye Centre (SNEC)
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