Often diagnosed in childhood or adolescence, Stargardt disease is an inherited form of macular degeneration causing central vision loss. The condition is sometimes referred to as juvenile or early onset macular degeneration.
About the Disease
Stargardt disease is the most common form of inherited macular degeneration, affecting about 30,000 people in the U.S. The progressive vision loss associated with Stargardt disease is caused by the degeneration of photoreceptor cells in the central portion of the retina called the macula.
The retina is the delicate light-sensing tissue lining the inside wall of the back of the eye. Photoreceptor cells in the retina convert light into electrical signals, which are sent to the brain where they are processed to create the images we see. The macula, which is rich in cone photoreceptors, is responsible for sharp central vision — for tasks like reading, watching television, and looking at faces. Cones also provide vision in lighted settings and color perception.
Decreased central vision due to loss of photoreceptors in the macula is the hallmark of Stargardt disease. Some peripheral vision is usually preserved. Stargardt disease typically develops during childhood or adolescence, but the age of onset and rate of progression can vary. The retinal pigment epithelium (RPE), a layer of cells supporting photoreceptors, is also affected in people with Stargardt disease.
A loss or change in central vision is what usually leads to the initial diagnosis of Stargardt disease. A retinal doctor examining the retinas of a person with Stargardt disease will see characteristic yellowish flecks in the RPE. The flecks are deposits of lipofuscin, a byproduct of normal retinal cell activity. However, in Stargardt disease, lipofuscin accumulates abnormally.
The progression of vision loss in Stargardt disease is variable. Visual acuity (the ability to distinguish details and shape) may decrease slowly at first, accelerate, and then level off. Some peripheral vision is usually maintained.
Stargardt disease is usually an autosomal recessive condition caused by mutations in the gene ABCA4. It is inherited when both parents, called carriers, have one mutated copy of ABCA4 and a normal copy. Each child has a 25 percent chance of inheriting the two copies of ABCA4 (one from each parent) needed to cause the disease. Parents are unaffected carriers because they have only one mutated copy of ABCA4.
In a small percentage of cases, Stargardt disease is caused by mutations in the gene ELOVL4 and is passed on to children through the autosomal dominant inheritance pattern. In these cases, the parent has the disease and has a 50 percent chance of passing the mutated copy of ELOVL4 (and the disease) on to each child.
Living with the Disease
There are many services and accommodative and assistive resources available to people and families with Stargardt disease. 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 Stargardt disease is in the Newly Diagnosed section of this website.
Genetic testing is available to help people definitively diagnose their condition and the risk of other family members or future offspring being affected. A genetic diagnosis can also help a person qualify for a clinical trial. Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing, and other related issues.
Research and Clinical Trials
The Foundation is supporting several promising avenues of research, including gene, stem-cell, and drug therapies.
To learn about clinical trials underway for Stargardt disease, visit www.ClinicalTrials.gov.
For the latest research advances for Stargardt disease treatments, refer to the Foundation publication Stargardt Disease: Research Advances.
May 9, 2019 Press Releases
Bipartisan Bill Will Stimulate Up to $1 Billion in New Funding for Blindness Research
Jul 19, 2018 Press Releases
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
Jun 15, 2018 Press Releases
Foundation Fighting Blindness Clinical Research Institute Hosted Workshop for ProgStar, the Largest Natural History Study for Stargardt Disease Ever Launched
The primary goal of the landmark study, funded by the Foundation, is to provide companies and researchers with disease-progression data and potential clinical trial endpoints to drive therapy development
Jun 8, 2018 Press Releases
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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Feb 1, 2019 Retinal Disease Research Advances
Recent developments in research on Stargardt disease
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.
Nov 21, 2018 Eye On the Cure Research News
The Seattle biotech Acucela is now enrolling participants in its Phase 3 clinical trial for emixustat hydrochloride, an emerging oral drug for slowing vision loss in people with Stargardt disease, an inherited form of a macular degeneration.
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.
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Jun 22, 2018 Eye On the Cure Research News
Watch recorded sessions from VISIONS2018.
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Apr 25, 2018 Eye On the Cure Research News
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Jan 23, 2018 Eye On the Cure Research News
Ophthotech, a biopharmaceutical company developing therapies for eye diseases, has enrolled the first patient in its Phase 2b clinical trial of Zimura® for people with Stargardt disease caused by mutations in the gene ABCA4.
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.
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Dec 20, 2017 Eye On the Cure Research News
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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.
Oct 13, 2017 Eye On the Cure Research News
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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, the Foundation Fighting Blindness has played a critical role in developing research talent.
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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
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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 8, 2017 Eye On the Cure Research News
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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 28, 2017 Eye On the Cure Research News
Much of the information and data shared during the meeting came out of ProgSTAR, the FFB-CRI-funded natural history study of 365 Stargardt disease patients.
Feb 17, 2017 Eye On the Cure Research News
Company Builds on FFB’s Initial Investment to Garner $265 Million in Therapy Development Funding
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
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Aug 2, 2016 Eye On the Cure Research News
Both approaches show strong, near-term potential for providing meaningful vision to people who are otherwise blind from retinal diseases such as retinitis pigmentosa and age-related macular degeneration (AMD).
Jul 1, 2016 Eye On the Cure Research News
VISIONS 2016 — Dr. Shomi Bhattacharya Wins FFB Award for Gaining an Understanding of Variations in Vision Loss
At VISIONS 2016, FFB’s national conference, the Foundation honored him with its Ed Gollob Board of Directors Award for breakthrough research conducted within the past year.
Jul 1, 2016 Eye On the Cure Research News
VISIONS 2016 - Dr. Richard Weleber Receives FFB's Highest Research Honor, Recognized in Touching Video
Dr. Weleber became the 10th recipient of the Foundation’s highest honor, named after FFB co-founder Lulie Gund, during the opening lunch of the VISIONS 2016 conference.
Jun 27, 2016 Science Education
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Jun 24, 2016 Eye On the Cure Research News
Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials.
May 4, 2016 Eye On the Cure Research News
In August 2015, the biotech company Alkeus launched a multi-center TEASE Phase II clinical trial for the drug ALK-001.
May 2, 2016 Eye On the Cure Research News
When the study and the reports are completed, the ProgSTAR database will be made available to researchers and companies developing therapies.
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For those of us supporting the drive for vision-saving treatments and cures, he’s exactly the type of person we want on our team.
Jun 26, 2015 Eye On the Cure Research News
Dr. Boye received the Foundation’s Board of Director’s Award, which was presented at VISIONS 2015, FFB’s annual conference, for achievements in retinal research.
May 19, 2015 Eye On the Cure Research News
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Jun 21, 2014 Eye On the Cure Research News
The powerful and secure system enables patients to keep track of their clinical care and vision changes. At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.
May 8, 2014 Eye On the Cure Research News
Simply put, they’re creating therapies that can save vision in as many people as possible, independent of the genetic cause of disease.
Apr 8, 2014 Eye On the Cure Research News
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The French retinal implant developer Pixium quietly launched a clinical trial for its Intelligent Retinal Implant System 1 (IRIS1) in France, Austria and Germany.
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Jun 12, 2013 Eye On the Cure Research News
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May 10, 2013 Eye On the Cure Research News
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May 7, 2013 Eye On the Cure Research News
The goal, “to regenerate the neurons and neural connections in the eye and visual system,” is exactly what people with retinal diseases need to save and restore their vision.
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Mar 15, 2013 Science Education
The information gleaned from ProgSTAR will be of enormous value in designing future clinical trials for Stargardt disease treatments.
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.
Jan 26, 2011 Eye On the Cure Research News
Acucela Initiates Phase 2a Study of Emixustat Hydrochloride Addressing Patients with Stargardt Disease
The study is designed to evaluate the pharmacodynamics, safety and tolerability of emixustat in subjects with macular atrophy secondary to Stargardt disease.
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