Stargardt disease is a genetic form of juvenile macular degeneration that gradually leads to central vision deterioration. It is marked by deposits of yellowish-fatty material in the macula that kill light-sensitive cells, thus impairing vision centrally.

Regular visits to an ophthalmologist who specializes in retinal diseases can help monitor the state of your eyes and slow down vision loss, while improving treatment results.

What is Stargardt’s Disease?

Stargardt’s disease is an inherited retinal condition affecting light processing tissue inside of the eye. It manifests as a disorder affecting a region known as the macula which contains high concentrations of light-sensing rods and cones (which normally detect visual information such as images, texts, colors) for interpretation by the brain; but in Stargardt’s disease these rods and cones become damaged or cease functioning altogether, creating black holes within the macula that gradually obscure central vision while useful peripheral vision usually remains.

Stargardt’s symptoms typically appear during early childhood or adolescence. Children and teenagers may report experiencing blurry or distorted vision and seeing a blind spot at the center of their field of vision, difficulty with reading materials, identifying objects, navigating outdoors during bright days, as well as difficulty finding their way indoors when the lights come on, as well as difficulty navigating and identifying objects within their field of vision.

As this condition develops slowly and is difficult to diagnose, children and teenagers may require multiple eye exams from various ophthalmologists before receiving a diagnosis. An eye exam involves looking for signs of leakage of fluid or retina damage; doctors will perform electrodiagnostic tests such as measuring macular function in dim lighting conditions as well as visual acuity tests, Amsler grids tests and fluorescein angiography to investigate retinal circulation patterns and detect leakage vessels.

Patients can temporarily safeguard their vision by wearing sunglasses and brimmed hats outdoors during daylight to reduce UV radiation that is potentially damaging. They should also limit vitamin A intake as this could exacerbate disease progression.

Current treatments for Stargardt’s disease focus on slowing vision loss. People living with Stargardt’s can benefit from seeing an ophthalmologist specializing in retinal diseases for regular appointments to discuss ways of preventing further vision loss, including nutrition and exercise programs and assistive devices like electronic magnifiers and software that reads text aloud to assist their daily activities, including reading mail, books, bills or any printed material they encounter in daily life.

Symptoms of Stargardt’s Disease

Stargardt’s disease is an inherited form of macular degeneration. A genetic mutation causes a protein to block nutrients and waste transport between the retina’s central portion, or macula, and its peripheral areas such as cone photoreceptor cells causing them to degenerate over time. Symptoms typically emerge during childhood or adolescence and develop slowly over time, gradually diminishing central vision while leaving peripheral (side) vision intact. Central vision loss typically coincides with yellowish flecks known as fundus flavimaculatus on the retina’s surface in about 80% of cases; they can also be found during fluorescein angiography imaging and fundus autofluorescence images; while newer spots tend to have increased or no autofluorescence.

As symptoms can develop slowly and be misdiagnosed or missed entirely, it is crucial that regular eye exams by an ophthalmologist who specializes in diagnosing hereditary retinal diseases take place. Such exams will allow doctors to detect fatty buildup under the macula as well as ineffective cones – and identify Stargardt’s disease accordingly.

Multiple treatments exist to assist patients in managing their condition and maintaining quality vision, such as low vision aids that aim to maximize peripheral and central vision. Some individuals also find relief through laser treatment for sealing leaky blood vessels in the retina while brimmed hats or sunglasses provide necessary UV protection, slowing progression of disease.

Stargardt’s disease causes permanent vision loss, yet there are ways to slow its progress and enhance quality of life. Regular genetic counseling sessions are advised so as to better understand their inheritance pattern and risk for passing it along through future generations – this information may aid family planning as well as possible use of gene or stem cell therapies in the future. Genetic counseling may also benefit those with a family history of this condition who plan on having children themselves.

Diagnosis of Stargardt’s Disease

Stargardt disease occurs when fatty material accumulates in the macula of the retina – light-processing tissue at the back of the eye). The macula contains high concentrations of light-sensing rods and cones which contribute to central vision (such as seeing fine detail or reading), but peripheral vision remains undamaged by this disease. Symptoms usually arise in early adolescence but often progress with age.

This condition is genetic, meaning it is passed from parent to child through genes. Mutations of an ABCA4 gene cause its protein to malfunction and deposit lipofuscin into retinal pigment epithelial cells – eventually creating yellowish lumps that damage light-sensing cells of the macula and eventually leading to vision loss.

People diagnosed with Stargardt’s disease typically undergo physical examination and family history interviews to establish an accurate diagnosis. Eyecare professionals may recommend fundus photography – an imaging test which uses light to take pictures of the retina – which allows doctors to spot signs of Stargardt’s such as fluid accumulation below the retina and damaged photoreceptors.

Additional tests include visual acuity testing and color blindness examination. An Amsler grid may help doctors measure straight line detection abilities; in certain instances physicians may order an electrodiagnostic study to investigate macular blood vessels function and see how well your eye adapts to dim lighting environments.

Current treatments to reverse or cure Stargardt’s Disease do not exist, though patients can benefit by avoiding sunlight and wearing high-quality sunglasses and wide brim hats when outside. There are clinical trials being conducted on new medications which could slow progression; the most promising drug being studied targets the accumulation of lipofuscin in eyes such as Tinlarebant (LBS-008, belite Bio). Other promising approaches being studied are laser therapy, gene therapy, stem cell therapy and synthetic retinoid treatments.

Treatment of Stargardt’s Disease

Stargardt’s disease does not yet have an established cure, but treatments exist to assist people in adapting to vision loss. These may include low vision aids such as lamps, large print magazines and special magnifiers or telescopes; local agencies for the visually impaired may provide training and support services as well. Furthermore, laser treatment may help seal leaking blood vessels in the retina – although this won’t restore lost vision, it may slow its progression.

Mutations in the ABCA4 gene cause Stargardt’s disease, resulting in fatty deposits to accumulate under the macula and cones providing central vision to stop functioning, leaving an opaque black hole at the center of vision without impacting peripheral or color vision. Children living with Stargardt’s often experience difficulties reading or recognizing pictures, numbers and letters, driving or seeing facial expressions; their reading skills often decrease significantly and driving may become dangerously limited as a result.

Studies conducted recently demonstrated that most Stargardt’s disease patients who received autologous bone marrow stem cell treatment experienced either improved or stabilized vision; some even achieved 20/100 or better visual acuity! While these results may come as a surprise, they demonstrate how stem cell therapy could provide solutions for rare genetic diseases like Stargardt’s.

Echothiophate iodide may provide another effective treatment option for Stargardt’s disease patients by inhibiting an enzyme responsible for breaking down acetylcholine in both the brain and retina, thus increasing acetylcholine levels which in turn helps improve central vision by keeping it from blurring or distorting over time.

Individuals living with Stargardt’s should visit an ophthalmologist regularly and get eye exams, in particular an electroretinogram (ERG), which measures how the eyes react to light, and an optical coherence tomography scan, which detects changes due to Stargardt’s disease. They can also undergo genetic testing to see whether they possess the ABCA4 gene that causes Stargardt’s.