Hong Kong Children's Hospital

Combined Ocular Genetics Clinic

Combined Ocular Genetics Clinic

The Combined Ocular Genetics Clinic is a one-stop combined clinic for patients and families with genetic eye diseases. This multidisciplinary clinic comprises of ophthalmologists, clinical geneticists, optometrists, genetic counsellors and nurses. Referrals are accepted from ophthalmologists in both public and private sectors. Genetic testing is arranged where appropriate and results are discussed among team members for subsequent counselling and management.

Is ocular disease genetic?

Genetic factors play a major role in the development of a wide range of eye disorders. Some eye diseases are present at birth, affecting parts of the eye, while others develop later in life. It is possible for these disorders to run in families or to be unique to a single member of the family. Although we may not always be able to pinpoint a specific genetic cause, our understanding continues to improve. The Combined Ocular Genetics Clinic is dedicated to expanding our knowledge and optimizing the subsequent management of genetic eye conditions. Upon attaining a molecular diagnosis of the respective eye condition, disease prognostication, family cascade screening, reproductive planning, surveillance and target therapy may be possible.

Eye conditions with possible genetic causes include:

• Retinitis pigmentosa
• Leber congenital amaurosis
• Inherited macular dystrophies such as Stargardt disease
• Vascular retinopathies including Norrie disease
• Anterior segment dysgenesis such as Peters anomaly
• Coloboma
• Aniridia
• Congenital cataract
• Congenital high refractive error
• Optic neuropathy/atrophy
• Multisystem disorders that have primary eye findings such as oculocutaneous albinism, Usher syndrome, Stickler syndrome

Specialist medical teams include:

• Ophthalmologist
• Clinical Geneticist
• Genetic Counsellor
• Genetic Nurse

Seeking professional evaluation

Before visiting our Combined Ocular Genetics Clinic, ophthalmologists and optometrists will conduct a thorough eye examination for you, which is essential for determining which genetic tests are appropriate. Genetic assessments and genetic counselling are provided by a team of specialized healthcare professionals. Together, these professionals provide information and support to individuals and families affected by genetic eye conditions. Genetic counselling helps you with information about genetic conditions that may affect your child, as well as other members of the family.

Preparation for the appointment

1. We may contact you several weeks before the appointment. The purpose of this is to schedule an ocular screening for the related family on the same day as the scheduled appointment. Further investigations may be directed based on your family members' ocular findings.
2. It is recommended that both you and your partner (or legal guardian if applicable) accompany your child to the appointment if he or she is under 18.
3. Gather your personal and family medical history related to eye diseases
4. Bring along any medical records related to your concerns (eye assessment reports from private ophthalmology clinics or optometrists)
5. Bring a list of questions and concerns
6. Bring personal identification document of the patient (e.g. HKID card, HK birth certificate or passport). If the patient is under 18, personal identification documents of the parents/guardians (e.g. HKID card or passport) are required

For further enquires, you may contact us.
Department of Clinical Genetics
Address: Specialist Outpatient Clinic, 1/F, Tower B, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Kowloon, Hong Kong
Office Tel: 5741 3186

HKCH DCG and OVS – GGJ2
AUG 2024