Genetic Eye Diseases
2026/03/30
Genetic eye conditions can affect vision in many different ways. Some cause difficulties with night vision, others affect colour vision, central vision, or peripheral (side) vision. Certain conditions begin in childhood, while others progress slowly in adulthood.
Understanding whether a condition is inherited can help you and your care team plan the best long‑term approach to protecting your sight.
Genetic eye diseases are conditions caused by changes in genes that affect the retina or other parts of the eye function. They may run in families and can vary widely in their severity, symptoms, and rate of progression.
At the National University Hospital, our Inherited Retinal Disease (IRD) Service focuses on caring for individuals with rare and complex genetic eye conditions.
We offer a range of specialised services within the IRD programme, including:
- Deep clinical phenotyping, such as multimodal retinal imaging and electrophysiology
- Access to clinical research studies at the National University Health System (NUHS)
- Pre‑test and post‑test genetic counselling
- Support in understanding how results influence current care and long‑term planning
Genetic tests offered may include:
- Targeted retinal disease panels
- Broader sequencing strategies where clinically appropriate
- Specialised confirmatory testing for rare variants
All testing strategies will be discussed with you before proceeding.
The IRD Service, based at the NUH Eye Surgery Centre, provides specialised, multi‑disciplinary care for patients with inherited eye conditions such as:
- Rod‑cone dystrophies
- Cone or cone‑rod dystrophies
- Macular dystrophies (e.g., Stargardt disease)
- Severe early childhood‑onset retinal dystrophy
- Leber congenital amaurosis
We also care for individuals with syndromic conditions, where eye symptoms occur together with other systemic features, including:
- Usher syndrome
- Alström syndrome
- Ciliopathies such as Senior–Løken syndrome
People with personal or family histories of these conditions, or those experiencing unexplained progressive vision issues, may benefit from assessment.
During your visit, you may undergo detailed eye imaging and functional tests tailored to your symptoms. If genetic testing is recommended, your care team will explain the process and provide support throughout the process.
Once results are ready, your clinicians will help you understand what they mean for your condition, long‑term vision planning, and possible treatment or research opportunities.
Genetic testing can:
- Provide a more precise diagnosis
- Help identify the specific gene involved
- Guide discussions on prognosis and future vision planning
- Inform eligibility for clinical trials or emerging treatments
- Support family counselling and screening if needed
Testing is always done together with expert clinical evaluation and counselling.
The IRD Service is led by:
Dr Chan Hwei Wuen
Senior Consultant
It also includes a team of experienced clinicians:
Prof Graham Holder
Hong-Leong Professor
A/Prof Caroline Chee
Senior Consultant
A/Prof Su Xinyi
Senior Consultant
Dr Wendy Wong
Consultant
Our clinicians have extensive experience in clinical trials and have contributed to major gene therapy studies, including:
- The first and latest Luxturna trials for RPE65‑related Leber Congenital Amaurosis (LCA)
- Clinical trials for Choroideremia
- CEP290‑related LCA
- RPGR‑related retinal degeneration
