Leber Congenital Amaurosis (LCA)
LCA is a group of inherited retinal diseases causing blindness or severe vision loss in early childhood.
What is Leber Congenital Amaurosis?
Leber congenital amaurosis (LCA) is a group of inherited retinal diseases characterized by severe impaired vision or blindness at birth. Some retinal experts consider LCA to be a severe form of retinitis pigmentosa (RP). The condition is caused by degeneration and/or dysfunction of photoreceptors, the cells in the retina that make vision possible. Photoreceptors capture light, converting it to electrical signals which are sent to the back of the brain to create the images we see. Mutations in one of more than two dozen genes can cause LCA.
Symptoms
Often within an affected infant’s first few months of life, parents notice a lack of visual responsiveness and roving eye movements, known as nystagmus. Eye examinations of infants with LCA sometimes reveal normal-appearing retinas. In other cases, several abnormalities are observed. Regardless, an electroretinogram (ERG), which measures retinal function, detects little if any activity in the retina. ERG tests are often essential to establishing a diagnosis of LCA. A genetic test can often provide a definitive diagnosis.
Many children with LCA habitually press their eyes with their fists or fingers. This habitual pressing on the eyes is known clinically as oculodigital reflex. The eyes of individuals with LCA can also appear sunken or deep set. Keratoconus (cone shape to the front of the eye) and cataracts (clouding of the lens through which light passes) can occur with the disease.
In some cases, other body systems (e.g., kidneys) can be affected by the genetic defects that cause LCA.
The most common genes associated with Leber congenital amaurosis (LCA) are CEP290, CRB1, GUCY2D, and RPE65.
Inheritance
LCA is almost always passed down through the autosomal recessive pattern of inheritance. In this type of inheritance, both parents, called carriers, have one mutated copy of the gene and one normal gene. They are unaffected carriers of LCA. Each of their children has a 25 percent chance of inheriting the two LCA gene copies (one from each parent) needed to cause the disorder.
Living with LCA
There are many services and accommodative and assistive resources available to people and families with LCA. Visit the Foundation’s Low Vision Resources page to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.
More information on managing LCA is in the Newly Diagnosed section of this Web site.
Genetic Testing
Genetic testing is available for LCA, and helps with attaining an accurate diagnosis. A patient and family with a genetic diagnosis are in a better position to understand which emerging treatment approaches and clinical trials are most appropriate for them.
Treatments
In December 2017, the biotech Spark Therapeutics obtained U.S. Food and Drug Administration approval for LUXTURNA™, an RPE65 gene therapy that has improved vision in children and young adults with RPE65 mutations. Early funding from the Foundation helped make this treatment possible. Treatments for forms of LCA caused by other mutated genes are in the development pipeline.
Research and Clinical Trials
For the latest research advances for LCA, refer to the Foundation publication: Leber Congenital Amaurosis: Research Advances.
View a list of current clinical trials, many made possible by Foundation support.
LCA page at www.ClinicalTrials.gov.
Next Section
Read the Most Recent Research on Leber Congenital Amaurosis (LCA)
Latest News
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Nov 13, 2024
Atsena’s LCA1 Gene Therapy Licensed by Nippon Shinyaku for Markets in US and Japan
The companies are planning a Phase 3 clinical trial for the promising gene therapy.
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Oct 23, 2024
Opus Genetics, Ocuphire Merger to Boost Advancement of Several IRD Gene Therapies
Merger will provide additional capital for gene therapy development.
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Mar 25, 2024
BlueRock Therapeutics and Foundation Fighting Blindness announce collaboration to expand the Uni-Rare natural history study of patients living with inherited retinal diseases
Collaboration will add a new multi-gene cohort of patients living with inherited retinal diseases. Data insights from the new study cohort will inform the future clinical trial design for BlueRock’s pipeline of cell therapies for treating blindness.
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Sep 7, 2023
Foundation Funds 25 New Grants Totaling $15.1 Million in FY23
The global leader in retinal degenerative disease research supports a total of 93 research grants in its portfolio.
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Nov 10, 2022
Foundation Launching its Largest Natural History Study to Date for 1,500 People with Inherited Retinal Diseases Caused by Rare Mutated Genes
Uni-Rare Study will improve clinical understanding of more IRDs and boost development of potential therapies.
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May 12, 2022
Opus Genetics Appoints Jennifer Hunt Chief Development Officer
Biopharma clinical development veteran to propel Opus’ AAV-based gene therapies for inherited retinal diseases toward patients.
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Sep 22, 2021
RD Fund Launches Opus Genetics with $19M Seed Funding to Advance Gene Therapy Treatments for Blinding Conditions
Initial programs will focus on treatments for rare pediatric blinding conditions. Company formed to advance the work of scientific cofounders Dr. Jean Bennett, Junwei Sun and Dr. Eric Pierce.
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Dec 16, 2020
Atsena Therapeutics Raises $55 Million Series A Financing to Advance LCA1 Gene Therapy Clinical Program, Two Preclinical Assets, and Novel Capsid Development for Ocular Diseases
Round was led by Sofinnova Investments with participation from Abingworth, Lightstone Ventures and all existing investors.
Company expands board of directors and plans to build out team.
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Aug 12, 2020
X Ambassadors Teams up with Foundation Fighting Blindness and Two Blind Brothers to Launch "Music to Our Eyes" Exclusive Livestream Music Series
This exclusive conversation and acoustic performance by Sam and Casey Harris of X Ambassadors on August 20, will raise awareness and funds to find treatments and cures for blinding diseases.
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Jul 29, 2020
Atsena Therapeutics acquires exclusive rights to Gene Therapy for GUCY2D-associated Leber Congenital Amaurosis
Company formed with $8.15 million Series 1; led by founding investors Hatteras Venture Partners and the Foundation Fighting Blindness
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Mar 31, 2020
COVID-19 Resources
The Foundation Fighting Blindness is closely monitoring the COVID-19 situation and its impact on the IRD community.
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Mar 12, 2020
Seeing hope: Ledyard nonprofit focuses on rare retinal diseases
Sofia Priebe, 17, is legally blind. Her parents have started a nonprofit, Sofia Sees Hope, to raise funds for research into and awareness of the rare genetic disease Leber congenital amaurosis, which causes her blindness.
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Feb 6, 2020
ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker® Program for People Living with Inherited Retinal Diseases
My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.
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Oct 2, 2019
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States
The program will offer patients with inherited retinal disease no-cost genetic testing and genetic counseling in the United States. Look for updated information on how to participate to be posted in mid-October, with program registration starting shortly thereafter.
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Aug 16, 2019
Foundation Fighting Blindness Investing Nearly $6.5 Million in New Grants
The newly funded research efforts include several therapies that have strong potential to treat a wide range of inherited retinal diseases.
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Jul 19, 2018
Foundation Fighting Blindness Urges Congress to Pass ‘Eye-Bonds’ Legislation
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
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Jun 8, 2018
Foundation Fighting Blindness and CheckedUp® Partner to Educate Retinal-Disease Patients About Research, Resources, and Emerging Therapies During Doctor Visits
The Foundation Fighting Blindness (the Foundation) and CheckedUp have formed a collaborative partnership to deliver patient-friendly diagnostic and disease-management information to people with retinal diseases such as age-related macular degeneration, retinitis pigmentosa, and Stargardt disease during their visits to eye doctors.
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Jan 9, 2018
A Retinal Research Nonprofit Paves the Way for Commercializing Gene Therapies
AN EMERGING, vision-restoring gene therapy for a devastating retinal disease is poised for Food and Drug Administration (FDA) approval. If it gets the regulatory nod, it will be the first gene therapy to receive FDA approval for the eye or an inherited condition.
Related Resources
Sep 25, 2020
ProQR Announces Virtual Presentations at Scientific Conferences
ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA therapies for severe genetic rare diseases, today announced virtual presentations at the Ophthalmology Futures Retina Forum, European Society of Retina Specialists (Euretina) congress and the Annual Meeting of the American Academy of Optometry (AAOpt).