Leber Congenital Amaurosis (LCA)
LCA is a group of inherited retinal diseases causing blindness or severe vision loss in early childhood.
About the Disease
Leber congenital amaurosis (LCA) is a group of inherited retinal diseases characterized by severe impairment 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.
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.
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 Living and Thriving pages 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 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.
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
The Foundation is supporting several promising avenues of research, including gene, stem-cell, and drug therapies.
For the latest research advances for LCA, refer to the Foundation publication: Leber Congenital Amaurosis: Research Advances.
To learn about clinical trials underway for LCA, visit www.ClinicalTrials.gov.
Jul 19, 2018 Press Releases
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
Jan 9, 2018 The Foundation in the News
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.
Apr 16, 2019 Eye On the Cure Research News
The treatment, formerly known as QR-110, is designed for people with the retinal disease Leber congenital amaurosis 10
Feb 1, 2019 Retinal Disease Research Advances
Recent developments in research on Leber congenital amaurosis
Jan 29, 2019 Eye On the Cure Research News
Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
Jan 17, 2019 Eye On the Cure Research News
The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration (AMD) participating in a clinical feasibility trial.
Dec 7, 2018 Eye On the Cure Research News
Editas Medicine, a company developing gene-editing treatments, has received authorization from the US Food and Drug Administration to launch a clinical trial for its emerging CRISPR/Cas9 therapy for people with a mutation in the gene CEP290, which causes Leber congenital amaurosis 10 (LCA10). LCA causes severe vision loss or blindness at birth.
Nov 2, 2018 Eye On the Cure Research News
Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.
Sep 11, 2018 Eye On the Cure Research News
On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.
Sep 5, 2018 Eye On the Cure Research News
The company reported that 60 percent of subjects in the trial demonstrated improvements in visual acuity and their ability to navigate a mobility course. The treatment was also safe for patients.
Aug 15, 2018 Eye On the Cure Research News
Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices.
Aug 6, 2018 Eye On the Cure Research News
Seventy scientists submitted requests for funding.
Jul 20, 2018 Eye On the Cure Research News
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Jul 5, 2018 Eye On the Cure Research News
Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.
Jun 22, 2018 Eye On the Cure Research News
Watch recorded session from VISIONS2018.
May 30, 2018 Eye On the Cure Research News
Horama’s gene therapies are injections of healthy copies of a gene underneath the retina to compensate for the defective gene.
May 3, 2018 Eye On the Cure Research News
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
May 2, 2018 Eye On the Cure Research News
FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease.
Apr 30, 2018 Eye On the Cure Research News
Shannon Boye, PhD, University of Florida, talks about the advancement of her of gene therapy for Leber congenital amaurosis toward a clinical trial.
Apr 25, 2018 Eye On the Cure Research News
More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.
Mar 7, 2018 Eye On the Cure Research News
The natural history study will be used to characterize the range of visual function in patients, to evaluate which visual tests may be the most useful for patients with this condition, and to determine the rate of change in visual function over a one-year period.
Jan 17, 2018 Eye On the Cure Research News
The French biotech GenSight Biologics has received regulatory authorization in the UK to launch the PIONEER Phase 1 \ 2 clinical trial for its GS030 system — a light-sensing gene therapy (optogenetics) coupled with eyewear, which enhances visual stimulation.
Jan 9, 2018 Eye On the Cure Research News
An exciting year in fighting blindness.
Dec 20, 2017 Eye On the Cure Research News
Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65.
Nov 21, 2017 Eye On the Cure Research News
If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.
Nov 15, 2017 Eye On the Cure Research News
The company plans to report interim, six-month study results in 2018 and 12-month results in 2019.
Oct 13, 2017 Eye On the Cure Research News
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
An advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval.
Sep 27, 2017 Eye On the Cure Research News
In addition to funding promising biotech start-ups, FFB has played a critical role in developing research talent.
Jul 26, 2017 Eye On the Cure Research News
The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see.
Jul 25, 2017 Eye On the Cure Research News
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.
Jul 24, 2017 Eye On the Cure Research News
The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
May 23, 2017 Eye On the Cure Research News
In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments.
May 16, 2017 Eye On the Cure Research News
ProQR, a biotechnology company in the Netherlands, has received authorization from the U.S. Food and Drug Administration to start a Phase I/II clinical trial for its therapy known as QR-110
May 8, 2017 Eye On the Cure Research News
How the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help a lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.
Mar 22, 2017 Eye On the Cure Research News
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 16, 2017 Eye On the Cure Research News
“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”
Feb 17, 2017 Eye On the Cure Research News
Dec 21, 2016 Eye On the Cure Research News
Improved outcome measures will make clinical trials for degenerative retinal diseases — including age-related macular degeneration (AMD), the world’s leading cause of blindness in seniors, and inherited retinal conditions such as RP and Stargardt disease — less expensive to conduct and able to deliver more precise results.
Oct 18, 2016 Eye On the Cure Research News
Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.
Oct 11, 2016 Eye On the Cure Research News
Dr. Shinya Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD).
Oct 6, 2016 Eye On the Cure Research News
The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging.
Aug 18, 2016 Eye On the Cure Research News
RetroSense’s optogenetic therapy is designed to restore vision to people who are completely blind from retinal degenerative diseases such as retinitis pigmentosa by bestowing light sensitivity to retinal ganglion cells, which survive after photoreceptors, the cells that make vision possible, are lost.
Oct 8, 2015 Eye On the Cure Research News
Aug 9, 2013 Science Education
The Foundation Fighting Blindness is, of course, all about finding treatments and cures for retinal degenerative diseases. However, we are well aware that many of our constituents and their families are dealing with more than just vision loss. That’s because genetic defects causing retinal conditions can sometimes affect other parts of the body. The result is conditions often referred to as syndromes.
Feb 18, 2013 Eye On the Cure Research News
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
Jun 19, 2012 Eye On the Cure Research News
How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment.
Oct 16, 2018 Beacons of Hope
Kai Wang was 18 months old when he was diagnosed with the condition. His parents never imagined the extraordinary journey they would take with their son when they learned he had a condition that would render him blind.
Aug 7, 2017 Beacons of Hope
Christian Guardino has been singing for as long as he can remember; it’s the seeing that is something new.
Oct 14, 2014 Beacons of Hope
Allison Corona is one of 40 people with Leber congenital amaurosis who’ve benefitted from a gene therapy clinical trial.
Dec 18, 2012 Beacons of Hope
How gene therapy restored some of a boy’s sight.