Stargardt disease is caused by genetic mutations to the ABCA4 gene that lead to lipofuscin accumulation within retinal cells, leading to loss of central vision.

Stargardt Macular Degeneration currently does not have a treatment, but LBS-008, developed by Belite Bio, shows promise. A global phase 3 trial has begun for this drug.

Sunglasses

Stargardt disease cannot be cured, but sunglasses may help to shield eyes from harmful blue light rays that cause macular degeneration and retinal damage. Vitamin A palmitate can also help lower risk for advanced macular degeneration while slowing vision loss, according to studies.

Stargardt disease requires regular eye exams with an ophthalmologist specializing in retinal diseases to accurately diagnose it and develop an appropriate treatment plan. Common symptoms of Stargardt include blurriness, distortion and blind spots. Central visual acuity declines gradually starting in childhood or adolescence and usually levels off between 20/200 and 20/400, making daily activities such as reading difficult or driving even dangerously hazardous.

Stargardt disease is caused by genetic mutations which result in lipofuscin build-up in retinal pigment epithelium cells due to an absence of ABCA4 protein, which provides instructions for making transporter proteins which transport fat across cell membranes. These waste products accumulated as a result of missing or incomplete instructions from this gene for making transporter proteins such as ABCA4. This accumulation occurs as result of its absence.

Lipofuscin deposits produced by Stargardt disease are toxic to photoreceptor cells, leading to gradual central vision loss over time. Unfortunately, Stargardt disease cannot be cured; however early diagnosis and treatment can help slow its progress and limit vision loss progression.

Vitamin A Supplements

Vitamin A supplements containing beta carotene and zeaxanthin may help protect and preserve the macula’s health, with eyedrops or gels prescribed by ophthalmologists or medical professionals. A low dose of vitamin D has also been found to improve vision in those suffering from Stargardt disease; this may reduce inflammation that leads to blurry vision.

Doctors may prescribe other medications to treat Stargardt disease. For instance, those suffering from retinitis pigmentosa should take antioxidant vitamins to protect their eyes from UV light exposure; sunglasses can also provide some protection. Furthermore, doctors can administer fluorescein angiography tests that measure whether there are leakage of blood vessels within the retina – this involves injecting yellow dye into one eye and then taking pictures of that eye’s retina – this allows doctors to get an indication of leakage through blood vessel leakage within that eye’s retina.

Other treatment options for wet age-related macular degeneration include eye injections to stop abnormal blood vessel growth in the retina. Medication that blocks vascular endothelial growth factor (VEGF) can also be effective against diseases like diabetic macular edema, Best’s disease and central serous chorioretinopathy by slowing leakage from fluid accumulation within the macula, thus helping preserve vision from further decline.

Researchers are testing an oral drug called Tinlarebant to combat Stargardt disease and advanced dry AMD. Tinlarebant works by decreasing levels of the protein that transports retinol into the eye – it has Fast Track and Orphan Drug status from the FDA for this use. Participants who participate must agree to undergo ophthalmological exams every six months for up to 24 months, as well as notify an ophthalmologist of any eye conditions that could interfere with participation before beginning.

Anti-VEGF Injections

Anti-vascular endothelial growth factor (anti-VEGF) medications have been proven to decrease vision loss risk by inhibiting the formation of new blood vessels that bleed and leak fluid into the retina. Anti-VEGF injections should typically be given on a monthly basis; Stargardt disease patients can often benefit from such treatments, which have shown to improve BCVA by 5-10 letters or more.

However, injections can be expensive and require multiple trips to a clinic for treatment. Furthermore, patients can experience side effects like pain and blurred vision that are difficult to tolerate.

Faricimab from Genentech was recently approved by the FDA and will likely cost significantly less than existing anti-VEGF agents. Studies have demonstrated that it provides similar visual acuity improvements but requires significantly fewer injections per eye, which in turn lowers overall costs.

Patients need to understand how long and what to expect during therapy sessions, as well as keep up-to-date with appointments in order to receive injections as per prescription.

As part of their prescribed treatment, patients should visit an ophthalmologist regularly after receiving injections to make sure there are no complications. This is especially important if severe discomfort, increased bleeding around the eye, or an increase in vision occur; which could indicate serious side effects have occurred. It’s advisable that records include both the date and eye of injection as well as batch number of vial used each time injection takes place.

Low Vision Aids

As Stargardt’s advances, children living with it will find that their central vision deteriorates, creating “blind spots” in the center of their field of vision and making reading, identifying faces and facial expressions, driving, as well as viewing all visual information on television or a computer screen difficult. They may also have difficulty adapting to dim lighting when transitioning from bright outdoors into dim indoor lighting conditions on sunny days.

As their visual acuity declines, children with Stargardt’s must adapt and find alternative means of gathering information. Magnifiers or low vision aids such as an electronic book reader (eBook) may help them read books and articles online, while schools may provide larger print materials. Furthermore, alternative techniques to aid academic and life skills like Braille writing may also be learned along with using canes safely on public transportation systems.

Stargardt’s disease is an autosomal recessive condition; thus its name. If both patients carry the gene mutation responsible, each of their children has a 25% chance of inheriting Stargardt’s.

LBS-008 is being studied to see its efficacy against Stargardt’s. The drug has received orphan designation in both the US and EU as well as rare pediatric disease designation. As a topical cholinergic agent that inhibits enzyme acetylcholinesterase while increasing endogenous levels of acetylcholine production, its safety could make it applicable for treating other macular degenerations, including wet age-related macular degeneration.

Genetic Testing

Genetic testing is used to identify individuals carrying gene mutations that increase their risk for certain conditions, and in particular those belonging to ethnic or racial groups known to carry an elevated carrier rate for specific disorders. Genetic tests should always begin with identification of the genetic disorder at hand and linkage analysis within families before predictive testing of children at risk for adult-onset disorders is attempted.

Stargardt disease occurs due to a mutation in the ABCA4 gene that interferes with the movement of nutrients and waste products between the retina’s central region, or macula, and blood vessels that supply it. Over time, this causes macula degeneration that leads to loss of central vision; Stargardt’s is a progressive eye disorder with differing symptoms for each person who suffers it.

Symptoms of macular degeneration include blurred and distorted vision, difficulty driving and an inability to read or work. Although treatments for the disease can slow the progression of symptoms, they cannot restore lost vision or stop further damage to the macula. Low vision aids can help patients make use of remaining peripheral and central vision; additionally they may receive counseling through a local agency for the visually impaired or social work services.

Researchers are engaged in extensive studies into potential therapies for Stargardt’s disease. Patients living with this condition are encouraged to participate in clinical trials through Foundation Fighting Blindness’ My Retina Trackeropens in a new window and ID Your IRD programs; their findings could lead to genetic interventions which stop its progress or even provide a cure.