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 characterised by severe visual impairment from birth or early childhood. Genetic changes affect the development and function of photoreceptor cells and other retinal cells, disrupting the retina’s ability to detect light and transmit visual information to the brain.
Children with LCA typically have significant vision impairment from infancy or develop severe vision loss within the first years of life. The severity and characteristics of the condition vary depending on the underlying genetic cause. More than 20 genes have been associated with different forms of LCA, and some may be linked to additional health considerations.
Advances in genetic testing, retinal imaging and gene-based therapies are improving understanding of LCA and creating new opportunities for diagnosis and treatment. Retina International works with people affected by LCA, families, patient organisations, researchers and clinicians worldwide to advance research, strengthen patient involvement and improve outcomes for people living with inherited retinal diseases.
~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.
Retinal cell therapies
Retinal cell therapies explore the replacement or regeneration of damaged retinal cells to help restore visual function.
Retinal prostheses and vision restoration technologies
Retinal prostheses and vision restoration technologies use innovative devices and technologies to stimulate remaining retinal pathways and support vision.
Natural history studies and registries
Long-term studies help researchers understand how different forms of LCA progress and identify meaningful outcomes for clinical trials.
Clinical trials
Ongoing clinical research is investigating new treatments for individuals with different genetic forms of LCA.
Information 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.
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