Leber Congenital Amaurosis (LCA)
A group of rare inherited retinal diseases that cause severe visual impairment from birth or early childhood.
Understanding Leber Congenital Amaurosis (LCA)
Leber Congenital Amaurosis (LCA) is a group of rare inherited retinal diseases that cause severe visual impairment from birth or early childhood.
LCA affects the development and function of the retina, particularly the photoreceptor cells responsible for detecting light and transmitting visual information to the brain. Children with LCA are typically born with significant vision impairment or develop severe vision loss within the first years of life.
Although LCA is one of the earliest-onset inherited retinal diseases, advances in genetic testing, retinal imaging, and gene-based therapies are transforming understanding of the condition and creating new opportunities for diagnosis and treatment.
Retina International works with patient organisations, researchers, clinicians, and families worldwide to advance research, strengthen patient participation, and improve outcomes for people living with LCA and other inherited retinal diseases.
What is Leber Congenital Amaurosis?
Leber Congenital Amaurosis is a group of inherited retinal conditions characterised by severe retinal dysfunction from birth or early childhood.
The retina contains specialised cells called photoreceptors that detect light and enable vision. In LCA, genetic changes affect the development, structure, or function of these retinal cells, preventing them from working normally.
Children with LCA often have severe visual impairment from infancy, although the level of vision and progression can vary depending on the underlying genetic cause.
LCA is genetically diverse, with more than 20 genes currently associated with different forms of the condition. Some forms primarily affect retinal function, while others may be associated with additional health considerations.
LCA is named after Theodor Leber, who first described the condition in the 19th century.
~5%
LCA accounts for approximately 5% of all inherited retinal dystrophies.
24 genes
Pathogenic variants in 24 genes currently account for around 70–80% of nonsyndromic LCA/early-onset severe retinal dystrophy cases.
1 in 33,000
LCA is estimated to affect approximately 1 in 33,000 people worldwide.
How LCA can affect vision
Severe vision impairment from birth or early childhood
Many children with LCA have limited vision from their earliest years.
Poor visual responses
Infants may not respond typically to visual stimuli or may have difficulty tracking objects.
Nystagmus
Involuntary movements of the eyes are common and may appear during infancy.
Light sensitivity
Some individuals experience discomfort or difficulty in bright light.
Reduced visual function
This may include difficulty seeing details, recognising objects, or navigating environments.
Eye pressing or rubbing
Some children may repeatedly press or rub their eyes, known as oculodigital behaviour.
Identifying LCA
Clinical eye examination
An ophthalmologist assesses retinal appearance, eye movement, and visual function.
Electroretinography (ERG)
ERG measures electrical responses from retinal cells and can demonstrate reduced retinal function.
Retinal imaging
Techniques such as optical coherence tomography (OCT) and retinal photography provide detailed information about retinal structure.
Genetic testing
Genetic testing is central to confirming an LCA diagnosis and identifying the specific gene involved.
A confirmed genetic diagnosis can help guide:
- Treatment decisions
- Clinical trial participation
- Family counselling
- Understanding disease progression
Supporting vision and exploring new therapies
Gene-based therapies
Gene therapy aims to address the underlying genetic cause of disease by delivering a working copy of a faulty gene or modifying genetic changes.
One form of LCA caused by changes in the RPE65 gene became the first inherited retinal disease to receive an approved gene therapy treatment.
Low vision support
Specialist services can provide:
- Visual aids
- Assistive technologies
- Educational support
- Orientation and mobility training
Early intervention
Children with LCA may benefit from early support services to assist learning, development, communication, and independence.
Multidisciplinary care
Care may involve ophthalmologists, genetic counsellors, low vision specialists, educators, and other healthcare professionals.
Supporting individuals and families
Living with LCA can involve adapting to significant vision impairment from an early age. With appropriate support, many people with LCA develop strategies to participate fully in education, employment, relationships, and community life.
Support may include:
- Early childhood intervention
- Accessible education resources
- Assistive technology
- Mobility training
- Peer support networks
- Genetic counselling
- Connection with patient organisations
The experiences and priorities of people living with LCA are essential in shaping research, healthcare, and advocacy efforts.
Advancing the future of LCA treatment
Gene therapy
Researchers are developing gene therapies targeting different genetic causes of LCA.
Learn About Gene TherapyGene editing
New technologies aim to correct disease-causing genetic changes directly.
Learn About Gene editingCell replacement therapies
Scientists are exploring whether retinal cells can be replaced or regenerated to restore vision.
Learn About Cell replacement therapiesNatural history studies and registries
Long-term studies help researchers understand how different forms of LCA progress and identify meaningful outcomes for clinical trials.
Learn About Natural History StudiesClinical trials
Ongoing clinical research is investigating new treatments for individuals with different genetic forms of LCA.
Learn About Clinical TrialsInformation and community support
Take the Next Step
Leber Congenital Amaurosis has helped transform the field of inherited retinal disease research, demonstrating the potential of genetic diagnosis and targeted therapies.
Through collaboration between patients, researchers, clinicians, and organisations worldwide, progress continues towards a future where more people living with LCA can benefit from improved care and treatment options.
