SNEC’s dedicated Ocular Genetics Service is committed to providing specialised genetic testing, diagnosis and targeted care for patients with hereditary eye conditions. Find out more about its services and shared care with GPs.
The GP’s Role, From Referral to Shared Care
A NEED FOR SPECIALISED CARE
With advancements in community screening and treatment for common eye conditions such as diabetic retinopathy and glaucoma, genetic eye diseases have emerged as the primary cause of blindness among working-age adults in developed nations like Singapore.
Patients with monogenic eye conditions constitute well over 1,000 outpatient visits at the Singapore National Eye Centre (SNEC) annually, with more than 300 new families diagnosed each year. Cascade testing frequently reveals affected but asymptomatic relatives, underscoring the critical value of genetic investigations and family outreach.
THE OCULAR GENETICS SERVICE AT SNEC
SNEC has recently launched its dedicated Ocular Genetics Service in October 2024, which is committed to providing specialised genetic testing, diagnosis and targeted care for patients with hereditary eye conditions.
A multidisciplinary service
The service integrates expertise from multiple ophthalmology sub-specialties including retina, glaucoma, neuro-ophthalmology, paediatrics and cornea, alongside skilled genetic counsellors and associates, led by its clinical director. This multidisciplinary approach ensures that patients receive comprehensive care tailored to their unique genetic profiles and eye conditions.
It represents a crucial step forward in the diagnosis, care and research of genetic eye conditions in Singapore. Through collaboration, research and personalised care, it aims to improve the lives of its patients and pave the way for innovative treatments.
Research and innovation
The service is focused on driving research and fostering innovation. More than 1,000 patients with inherited eye conditions have participated in its ongoing studies, aimed at uncovering monogenic eye conditions that are particularly relevant to Singapore and the surrounding region. This research has led to the identification of genetic variants with high prevalence locally, providing critical insights for targeted therapies.
Community engagement and education
Community engagement and education also play a central role in the service’s work. By raising awareness and offering educational outreach, it strives to support individuals and families navigating the complexities of inherited eye diseases.
The service’s importance is particularly evident in young patients, where early diagnosis can impact life choices, including career paths and family planning decisions.
Retina image taken from an 11-year-old patient with an inherited retinal degeneration. The condition was complicated by retinal bleeding and the patient underwent intensive medical treatment, which restored her vision to near-normal levels. The patient’s siblings were found to have the same underlying genetic condition and undergo periodic screening at SNEC.
Our Services & Conditions Treated
Inherited retinal degenerations (IRDs), including:
Inherited glaucomas
Inherited optic neuropathies
Corneal dystrophies
Syndromic conditions involving ocular manifestations
Genetic counselling and family cascade testing
Gene therapy for treatable forms of LCA
SHARED CARE WITH GPs
Collaboration with general practitioners (GPs) is a cornerstone of the Ocular Genetics Service’s patient care model. GPs play a pivotal role in identifying at-risk patients and coordinating care with the ocular genetics team. Shared care allows for continuity of support, from diagnosis through treatment and genetic counselling.
Together, we can address the challenges posed by hereditary eye diseases and deliver hope to patients and families navigating these complex conditions – by helping them better understand their genetic risk and make informed health decisions.
HOW GPs CAN REFER
GPs are encouraged to refer patients with known or suspected hereditary eye conditions to the SNEC Ocular Genetics Service for evaluation, genetic testing and personalised care.
Timely referrals can enable early diagnosis and the implementation of targeted interventions to preserve vision and mitigate disease progression.
For GP referrals, please contact the service at [email protected] or visit the website for more information.
Our Executive Committee
Clinical Director & Consultant
Dr Beau J. Fenner
Medical Retina Dept
Senior Consultants
Assoc Prof Ho Ching Lin
Glaucoma Dept
Dr Woo Jyh Haur
Corneal & External Eye Disease Dept
Dr Shweta Singhal
Neuro-ophthalmology Dept
Dr Ranjana Mathur
Medical Retina Dept
Assoc Prof Choi Mun Chan
Medical Retina Dept
Consultants
Dr Fiona Lim
Glaucoma Dept
Dr Saadia Farooqui
Paediatric Ophthalmology & Adult Strabismus Dept
