Stargardt disease is an inherited form of macular degeneration affecting the central portion of retina. The condition can lead to accumulation of waste material within macula and may result in blurry or dark vision.

Recently published case study data demonstrated rapid and sustained improvements in visual acuity and color vision for an individual with Stargardt disease who used topical cholinergic treatment versus natural decline leading to legal blindness from untreated Stargardt patients.

Symptoms

Stargardt’s disease is an inherited form of macular degeneration that typically appears during early adolescence or childhood. It affects the retina (light-processing tissue lining the back of the eye) and more specifically affects macula (central vision and color perception) most frequently through mutations which accumulate waste products called lipofuscin in cells responsible for sensing light and transmitting visual signals to the brain, eventually leading to cell death and the gradual loss of central and color vision over time.

Stargardt’s disease symptoms include blurry or distorted vision when looking directly at objects, difficulty reading or driving due to disruption of central field of view and impaired peripheral vision. Although progression of symptoms varies among individuals, legal blindness could eventually develop over time.

Symptoms of the condition are caused by genetic variations to the ABCA4 gene, which contains instructions for producing a protein that helps clear away waste from retina cells. When this gene becomes mutated, waste accumulates and leads to lipofuscin buildup in retinal pigment epithelium cells that destroy photoreceptor cells – eventually leading to gradual central and color vision loss in children with the condition.

Stargardt’s disease may not be curable, but several treatments are available that may slow its progress and enhance quality of life for those living with it. Tinted lenses and vitamin supplements may make objects and letters easier to see. Other treatments for Stargardt’s disease may include visits to an ophthalmologist who specializes in heritable retinal diseases like Stargardt’s. Fluorescein angiography can be used to detect changes in retina that could indicate Stargardt’s is present, along with regular exams by an eye care provider trained in Stargardt’s syndrome. This technique combines fundus photography and the use of a special dye to identify areas where retinal pigment epithelium has been damaged, providing visual acuity and choroidal thickness measurements that can be compared to images of unaffected regions.

Diagnosis

Stargardt disease is an inherited eye condition caused by waste products accumulating in the retina, typically beginning during childhood or adolescence and eventually leading to central vision loss. Symptoms may include blurred or distorted vision, blind spots and difficulty seeing in low light conditions; it is considered one of the most frequent forms of macular degeneration inherited through familial genes.

Stargardt macular degeneration is characterized by the accumulation of lipofuscin, a metabolic waste product, in the retinal pigment epithelium (RPE). Most cases of Stargardt macular degeneration are autosomal recessive due to mutations in ABCA4 gene that provide instructions for producing protein which help clear away waste products from retina. Mutations cause this protein not to function correctly and this waste builds up in RPE over time, damaging photoreceptor cells as central vision gradually worsens over time.

Ophthalmologists will thoroughly assess eyes of people suspected of Stargardt disease, using special fundus photography that shows damage or changes to the macula, visual acuity tests, color vision assessments and the Amsler grid as markers to track disease progression. They may also order electrodiagnostic tests such as macular flicker ERG which measures retinal response to flashes of light.

A 36-year-old female with severe Stargardt disease presented to our clinic. Over the course of 5 years, her vision had gradually worsened until it fell below 20/400 in both eyes; visual acuity had dropped to 20/400 for right eye and count fingers for left. OCT scans demonstrated atrophy of retinal pigment epithelium layers in macula region as well as hypoautofluorescence fovea region indicating Stargardt disease was present. After treating with topical cholinergic agents (echothiophate iodide and pilocarpine), improvement was sustained over time.

Treatment

Stargardt disease, a genetic condition that impairs central vision while typically maintaining peripheral (side) vision. The symptoms usually start appearing between early childhood and adolescence and progress over time, manifesting as blurry text or images, difficulty recognising faces or objects, or lack of detail in visual fields; colors may appear faded or washed out despite these complications, yet most individuals with Stargardt can lead normal lives and work as before.

Stargardt’s disease is most often the result of changes (mutations) to the ABCA4 gene. This gene usually produces a protein which disposes of waste materials from vitamin A processing by the eye; however, in people suffering from Stargardt’s disease this process becomes dysfunctional and waste material accumulates on the retina causing yellowish clumps on its light-sensitive layer which eventually kills off those cells responsible for providing sharp central vision.

There is no cure for Stargardt’s disease; however, there are treatment options that may slow its progress. These include wearing UV-protective sunglasses and wide-brimmed hats when outdoors; eating foods rich in vitamins A, C, E and zinc; as well as low vision aids like magnifiers and special software designed for computers and smartphones.

Some patients with Stargardt’s disease develop new blood vessels that leak fluid and bleed, similar to wet age-related macular degeneration (AMD). Anti-VEGF injections may prevent this.

Doctors aim to treat Stargardt’s disease using stem cell therapies and new medications that reduce inflammation and protect the retina. Researchers are studying genes which could potentially slow or stop vision loss for people living with Stargardt’s.

Recent research found that bone marrow stem cell therapy given to 12 Stargardt disease patients improved their best-corrected visual acuity (BCVA) by up to 20/400, though not enough to restore normal central vision. While more research needs to be conducted into how stem cells might help patients living with this disorder, more is being done on stem cell therapies for Stargardt’s. For more information about stem cell therapies for Stargardt disease contact the Foundation Fighting Blindness for additional assistance.

Prevention

Stargardt disease cannot be stopped or reversed, but there are ways to slow its progress and preserve what vision remains. People living with Stargardt should get regular eye exams from an ophthalmologist specializing in retinal diseases to diagnose Stargardt and recommend an effective course of treatment.

Under normal conditions, a protein produced by the ABCA4 gene helps clear away waste products from the retina (light processing tissue lining the back of the eye). But in Stargardt disease, mutations of this gene prevent it from working effectively, leading to waste build-up that kills photoreceptor cells in the macula and thus central vision declines as these photoreceptors die off, while peripheral vision remains unaffected.

People living with Stargardt disease should prioritize maintaining a nutritious diet and practicing regular sun protection, in addition to restricting vitamin A supplements that surpass their recommended daily allowance in order to prevent an excess intake that could accelerate visual loss. Doctors also advise against taking excessive vitamin A supplements which could speed up vision loss further.

Stargardt disease patients can benefit from low-vision aids like magnifying glasses and devices using text-to-speech technology to read letters, books, bills and other printed material aloud. Similar devices used to combat age-related macular degeneration also allow Stargardt disease patients to retain independence at home, school and in the workplace.

One way of maintaining low vision is undergoing laser treatments to seal leaking blood vessels in the eye. While these therapies are generally utilized for wet age-related macular degeneration patients, they can also prove effective against Stargardt disease symptoms.

Additionally, researchers are developing other means of slowing vision loss, including gene therapy approaches. European labs collaborate closely with various national and international groups on this research in an attempt to identify molecular targets that may work.

Scientists have recently made an exciting discovery: protein called hRORA (RAR) is essential for proper functioning of ABCA4, the gene associated with Stargardt disease patients who display mutations. Understanding its regulation could lead to new therapeutic approaches that could stop or reverse vision loss due to this eye disorder.