Ocular Genetics Service

Comprehensive Care for Inherited Eye Diseases

Introduction

Welcome to the Ocular Genetics Service at the Singapore National Eye Centre (SNEC). Our dedicated team specializes in diagnosing and managing a wide array of inherited eye diseases. These conditions can significantly impact vision and quality of life, and we are committed to providing our patients with the best possible care.

Spectrum of Inherited Eye Diseases

Inherited eye diseases are a diverse group of conditions that can affect various parts of the eye, including the cornea and anterior chamber, eyelids and ocular adnexa, lens, retina, and optic nerve. These conditions may pass down from one generation to another and you may already be aware that your family has an inherited eye disease, but often an affected person may have no known family history of the condition. Inherited eye diseases aften remain undiagnosed for many years, which causes delays in appropriate management for patients.

Retina

Inherited retinal disease (IRD) encompasses a very large number of conditions that affect the light-sensing tissue that lines the back part of the eye. Some of the more common IRDs include:

Retinitis pigmentosa (RP): A condition that result in night blindness, visual field loss, and occasionally loss of central vision due to the degeneration of the light-sensing cells of the retina.

Leber congenital amaurosis (LCA): A severe genetic disorder that leads to severe visual impairment early in life.

Stargardt disease: A highly variable condition that leads to progressive loss of central vision.

Cone dystrophy: A condition where the light-sensing cells required for sharp central vision and colour vision slowly degenerate, causing symptoms such as light sensitivity (photophobia), loss of colour vision, and loss of central vision needed for reading and seeing fine details.

Usher syndrome: This is one of many “syndromic” forms of inherited retinal degeneration, where more than one body system is affected. People with Usher syndrome have variable levels of hearing loss in addition vision loss from retinitis pigmentosa (RP). Losing both of these essential senses causes severe challenges for affected individuals.

Cornea

Corneal Dystrophies: A group of inherited disorders that affect the clarity of the cornea, causing vision impairment.

Inherited Eyelid and Ocular Adnexa Conditions

Ocular Adnexa

Anophthalmia/Microphthalmia: Conditions where one or both eyes are absent or abnormally small from birth.

Congenital Ptosis: Drooping of the upper eyelid present at birth, which can affect vision development.

Inherited Lens Disorders

Congenital Cataracts: Clouding of the lens present at birth, which can lead to vision loss if not treated promptly.

Ectopia Lentis: Dislocation or displacement of the lens, often associated with conditions like Marfan syndrome.

Inherited Glaucoma

Primary Congenital Glaucoma: A rare condition present at birth that is caused by abnormal development of the eye's drainage system, leading to increased intraocular pressure and vision loss.

Juvenile Open-Angle Glaucoma: A type of glaucoma that occurs in children, teenagers, and young adults, characterized by increased intraocular pressure and progressive optic nerve damage.

Genetic Testing for Inherited Eye Diseases

Genetic testing is a powerful tool that helps identify the specific gene changes causing inherited eye diseases. By understanding your genetic makeup, we can provide more accurate diagnoses, offer personalized information about how your condition may progress, and explore options for treatment and management. For families, genetic testing can clarify the chances of passing on an eye condition and guide family planning decisions.

It is important to note that while genetic testing can offer valuable insights, it is not necessary for every patient. In some cases, it helps confirm a diagnosis or opens doors to clinical trials and emerging therapies. However, not all results will lead to immediate changes in treatment.

If you are considering genetic testing, our team of specialists, including genetic counsellors and ophthalmologists, is here to help you navigate the process and understand the results. Together, we aim to empower you with knowledge to make informed decisions about your eye health and the health of your family.

Treatments for Inherited Eye Diseases

The complications of inherited eye diseases vary depending on the specific condition but can include progressive vision loss, difficulty with daily activities, and reduced quality of life. Early diagnosis and management are crucial in preventing or minimizing these complications.

At SNEC, we offer a range of treatments tailored to the specific needs of each patient.

These treatments include:

Medications: To manage conditions like glaucoma, corneal dystrophies, and inherited retinal disease.

Surgery: For conditions such as congenital cataracts, corneal dystrophies, retinal detachments, and keratoconus.

Low Vision Aids: Tailored devices and training for individuals with visual impairment from inherited eye diseases are available from our Low Vision Service <LINK>

Luxturna: A gene therapy for patients with RPE65-associated Leber Congenital Amaurosis, which can significantly improve visual function for affected individuals.

Our Care Team

The Ocular Genetics Service at SNEC is staffed by a multidisciplinary team of experts dedicated to providing comprehensive care for patients with inherited eye diseases.

Our team includes:

Doctors

Clinical Director

Dr Beau J. Fenner

Clinicians

Cornea

Dr Woo Jyh Haur

Glaucoma

Dr Fiona Lim

Clin Assoc Prof Ho Ching Lin

Paediatric Ophthalmology

Dr Saadia Farooqui