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.
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
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.
Aug 22, 2018 Eye On the Cure Research News
The company is taking on a multi-track strategy that includes retinal gene-therapy development, including delivery of over-sized genes and design of a two-step process of gene knockdown and replacement for autosomal dominant conditions.
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 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 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.
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.
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.
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 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 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
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.
Jun 27, 2016 Science Education
The story of Two Blind Brothers, a luxury clothing line that donates its proceeds to retinal research.
Mar 29, 2013 Eye On the Cure Research News
These healthy fats have exciting potential for treating a wide range of retinal degenerations and other health conditions.
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.
Jul 27, 2018 Beacons of Hope
A story about living with retinitis pigmentosa.
Sep 20, 2017 Beacons of Hope
When you’re the catcher, the ball always comes to you. Heather Presnar wouldn’t have had it any other way.
Jun 27, 2016 Beacons of Hope
May 30, 2012 Beacons of Hope
Brooke James has had more than a glimpse of what it means to be blind in certain parts of the world. And she can assure you, it’s scary.