Stargardt disease is an autosomal recessive genetic eye disorder caused by mutations to the ABCA4 gene, leading to accumulations of toxic lipofuscin deposits within retinal pigment epithelial cells of the macula.1 These mutations lead to accumulations of toxic lipofuscin build-up.

Stargardt disease does not have a single cure or standard treatment option, yet some patients can improve their vision with special low-vision devices like magnifiers, electronic readers and video telescopes. Patients can also learn new strategies for performing daily tasks with limited vision such as voice recognition software.

Stem Cell Therapy

Stem cells are immature blood cells with the potential to differentiate into almost any type of cell in the body, making them an invaluable resource for regenerative medicine and cell therapy. Many clinics across the United States now offer stem cell treatments for conditions ranging from autoimmune disease to chronic pain; however, as these therapies are not FDA-approved they should only be utilized under clinical trials.

Mutations in the stargardt disease gene can result in central vision loss, with symptoms typically appearing during childhood and progressing over time. Unfortunately, no cure exists yet, though patients can slow the progression by wearing sunglasses and a brimmed hat when going outdoors.

Gene and cell therapy research may one day produce a solution to retinal detachment disorders. One potential treatment will involve replacing dead photoreceptors in the retina with healthy ones; researchers are currently testing an RPE transplantation technique as one way of doing this; RPE cells provide essential support functions for photoreceptor cells in the retina and transplanted RPE cells are expected to take their place as they replace damaged ones in both eyes.

Drugs may also help block lipofuscin breakdown in retinal pigment epithelial cells. A drug called Retinitis Pigosa Vasculopathy-Lowering (RPVL) reduces its buildup in eyes and has shown promising results during a small clinical trial.

There are also gene therapies in development to treat Stargardt eye disease and restore vision, such as using gene transfer vectors to insert functional copies of ABCA4 gene into retinal pigment epithelial cells – this gene regulates lipofuscin breakdown; by restoring its function it should reverse mutations associated with Stargardt disease.

Echothiophate Iodide may also help treat Stargardt Disease by increasing acetylcholine production and thus helping vision. One case study on dilute echothiophate Iodide demonstrated its success at improving vision by helping one patient recognize colors and identify objects more quickly.

Gene Therapy

Gene therapy is a therapeutic technique used to treat or cure certain diseases by adding healthy DNA sequences into cells. Scientists typically employ viruses like AAV or Lentiviral vectors in order to deliver these genes directly into targeted cells. Eyes make ideal targets for gene therapy because their immune systems tend not to reject new DNA sequences introduced through injection.

Researchers have used gene-editing technology to target and replace damaged photoreceptor cells in patients suffering from Stargardt disease. Unfortunately, however, this approach has yet to show any success at stopping further vision loss from the condition. Multiple companies are currently developing therapies targeting the ABCA4 gene which is commonly mutated among those living with Stargardt.

One method being explored involves cloning an embryo and editing its DNA to correct any mutation that leads to Stargardt disease. Assuming all cells contain healthy genes, this technique would result in a fetus with healthy genes throughout its cells – but this doesn’t count as true cloning since its offspring wouldn’t genetically resemble either parent.

Scientists have developed another gene-therapy strategy that targets retinal pigment epithelial (RPE) cells in the eye. By manipulating RPE cells to produce protein that prevents A2E buildup, and creating a nanoparticle that delivers this protein directly into the retina where RPE cells absorb it, researchers have created another gene therapy method currently in human clinical trials and showing promising results in some studies.

One study involved treating a 14-year-old with Stargardt’s with echothiophate iodide for central vision loss. As part of his treatment, he was able to read signs in front of him and perceive colors for the first time ever; however, this approach didn’t help him see straight ahead or cars driving down the road.

Stargardt’s is incurable, but can be managed through low vision aids like large print books, special magnifiers, telescopes and low-vision glasses. Laser treatments may help seal leaky blood vessels to reduce further damage. Emotional and psychological support should also be sought should Stargardt’s be diagnosed; children and teens can find it emotionally taxing to learn that they will gradually lose their sight.

Bioengineered Eyes

Scientists are developing bioengineered eyes to replace ones damaged by disease. Using human cornea cells to construct these artificial corneas, scientists transplant them into patients suffering from various eye conditions – in Stargardt patients who have the wet form of this condition such bioengineered corneas could restore normal vision.

Nature Medicine published an article by scientists led by Dan Huh, associate professor of Bioengineering at Penn Engineering and graduate student Jeongyun Seo that describes their creation of a robotic human eye complete with blinking eyelid. They used this “eye-on-a-chip” to model dry eye disease (DED) and test potential drugs as treatments.

Huh and his team created their bioengineered eye by printing a porous scaffold about the size of a dime onto which they seeded human cornea cells, growing them within an inner yellow circle dyed yellow, while conjunctiva tissue grew on red circular areas around it. Mechanically simulating eye movement with gelatin slab acting as artificial eyelid that moved at human-blink rate and an eye-on-a-chip equipped with a tear duct for artificial tears were used for mechanical simulation of natural movement.

Researchers then conducted tests on their eye-on-a-chip to ascertain its accuracy as an organ stand-in, and found its performance comparable to real human eyes. Utilizing their bioengineered eye, scientists then performed trials with various DED drugs that may potentially treat DED; one such upcoming medication contains proteins similar to those found in joint-protecting fluid that lubricate joints lubricin protein-based medication was identified as being most promising.

DED is a complex eye disease, difficult to study in the lab. By creating their eye-on-a-chip device, scientists were able to more accurately model DED and make rapid progress toward finding an effective solution. DED affects nearly one third of humanity and currently does not have FDA-approved treatments – this new device could speed up our search for one and improve eye care overall.

Retinal Implants

Though Stargardt disease cannot be cured, there are treatments available that may reduce symptoms and slow its progress – these include tinted lenses, vitamin supplements and low vision rehabilitation services.

Stargardt Disease, also known as Juvenile Macular Degeneration, is an inherited eye condition affecting the macula–a small spot at the center of each retina that allows us to perceive straight lines and colors clearly. It typically begins in children or adolescence and gradually progresses, eventually leading to central scotomas (blind spots) and loss of color vision; it’s an autosomal recessive trait meaning both parents must carry it for it to manifest.

Mutations in the ABCA4 gene result in lipofuscin buildup that kills macula cells and eventually leads to blindness. People carrying one mutation don’t typically show symptoms while those carrying two are affected by it.

Macular degeneration therapies currently in development for macular degeneration include drugs and retinal implants that aim to decrease toxic waste products that accumulate under the retina, leading to macular degeneration. ReVision Therapeutics has successfully placed their drug, Feretinide, in clinical trials while Acucela’s ACU-4429 has already undergone trials.

Implants are devices designed to send signals directly into the retina in order to stimulate any remaining functional photoreceptors. An electrode array placed inside an eye and connected to a microchip converts electrical impulses into stimulator signals which are transmitted wirelessly using transmitter coil glasses and transmitted directly into retinal implants.

Clinical reports regarding this implant have provided mixed results, with most patients reporting at least some crude visual function and some individuals gaining more detailed vision. Researchers are working towards optimizing it for human use by adding more pixels that will provide greater resolution.

If you suspect Stargardt disease, schedule an appointment with an ophthalmologist immediately. He/she can run tests such as visual acuity testing, Amsler grid examination and fluorescein angiography to evaluate retinal circulation.