Stargardt Eye Disease Cure

Stargardt disease is an inherited condition characterized by central vision loss while peripheral vision remains intact. It is often the result of mutations to the ABCA4 gene which provides instructions for producing proteins that clear waste material away from retina.

Dilute echothiophate iodide increases availability of endogenous acetylcholine (ACh) to retinal photoreceptors and ganglion cells with reduced populations, helping them overcome threshold and resume transmission of visual information to the brain.

What is Stargardt Disease?

Stargardt disease is an inherited retinal condition that primarily impacts the macula (an area within your retina that processes light). Stargardt occurs most frequently in this part of your eye where a higher concentration of rods and cones are located; genetic mutations cause these light-sensing cells to degenerate over time resulting in blurred vision, blind spots, or eventually loss of central vision altogether. By adulthood most individuals with Stargardt have 20/200 vision or worse vision.

Lipofuscin deposits form around the retinal pigment epithelium (RPE) in the macula of people suffering from Stargardt disease. Over time, these lipofuscin deposits inhibit RPE’s ability to detect and process light entering through its lens of the eye; consequently, central vision decreases as functional loss ensues.

Stargardt disease affects central vision, making it hard to read, drive or identify faces and objects. Other symptoms may include difficulty seeing fine detail like letters on road signs or menus. People living with Stargardt may also find it challenging to adapt to dim lighting environments.

Mutations in the gene encoding ABCA4 protein are responsible for Stargardt disease, leading to abnormally dense deposits of lipofuscin in the macular region of retina and diminishing its efficiency so it cannot transport nutrients and waste from retina back out into body efficiently.

About 2-7% of those affected with Stargardt disease seem to be spared from these deposits in a portion of the retina known as the peripapillary area, known as peripapillary area. While the reasons may not be completely understood, one theory suggests it could be down to having more photoreceptors per RPE cell making this area of retina more resilient against any negative impacts caused by an ABCA4 gene mutation.

Scientists are exploring various approaches to slow or stop the progression of Stargardt disease, such as gene therapy, stem cell therapy and drug clinical trials. While no cure for Stargardt disease exists yet, sunglasses and wide-brimmed hats should be worn during daytime outdoor activity to protect your vision from possible harm; in addition to this diet rich in vitamins A, C and E as well as lutein and zeaxanthin can also help slow its onset.

Symptoms

Stargardt disease is an inherited disorder that gradually destroys the macula, leading to blurred and distorted vision, central scotomas (blind spots), and eventually loss of color vision. Diseased retinas accumulate lipofuscin metabolic waste products underneath the retinal pigment epithelium, leading to gradual accumulation. It usually begins during childhood or adolescence and progresses gradually over time until central visual acuity declines to 20/200 or less. Patients suffering from cognitive difficulties often have trouble reading or recognizing numbers and letters, driving safely, or recognising faces and facial expressions. They also struggle with dimly lit environments where navigation may be more challenging; such as entering a dark room after spending time outdoors on sunny days.

Stargardt disease is caused by mutations to the ABCA4 gene, which provides instructions for making an ATP-binding cassette transporter protein. Most cases of Stargardt are autosomal recessive; one copy of each parent’s altered gene passes down to their children.

Lipofuscin deposits form beneath the retinal pigment epithelium, leading to lipofuscin. Composed of lipids and other substances, these deposits interfere with photoreceptors by inhibiting their ability to absorb light – this blocks central vision altogether; so eventually Stargardt sufferers may lose the ability to read, drive, recognize faces or objects or read text accurately; however, peripheral vision remains clear so they do not experience problems when going about daily activities like walking around without bumping into things or walking into walls etc.

Though no cure exists for AMD, several treatments exist to manage symptoms and slow progression: tinted lenses, vitamin supplements and low vision rehabilitation techniques may all provide assistance.

Gildeduretinol acetate recently showed promising results in a Phase 3 clinical trial conducted by Alkeus Pharmaceuticals. The experimental therapy successfully stopped progression of early stage Stargardt disease for patients. Furthermore, Alkeus Pharmaceuticals developed its molecule which improved patients’ abilities to distinguish objects and read. They hope to conduct an expanded trial this year.

Diagnosis

Genetic mutations responsible for Stargardt disease lead to the accumulation of lipids or waste products under the retina, weakening and damaging central vision and leading to difficulty reading, driving and recognising faces or objects as well as adapting to low light environments. Central visual acuity gradually declines starting in childhood or adolescence.

Untreated patients’ progression of disease can be measured through structural evaluations such as fundus autofluorescence imaging. Fluorescein angiography shows typical changes to include peripapillary atrophy of retinal pigment epithelium (RPE), areas with hypoautofluorescence and an outward spreading pattern of hyper-fluorescence radially outward from its source – all indicators that they are losing their choroid lining and developing lipofuscin buildup within RPE layers.

Stargardt disease is a complex disorder with variable rates of progression. According to studies conducted by the Foundation Fighting Blindness’ ProgStar program, children progress more rapidly than adults. Progression was also faster among those who started having Stargardt symptoms during childhood rather than adulthood-onset cases – findings consistent with clinical and epidemiological observations.

Although no treatment exists yet for Stargardt disease, Alkeus Pharmaceuticals’ gildeuretinol acetate has shown promise as an aid. Data from the TEASE 3 trial demonstrated this. Three teenage patients took oral gildeuretinol from their doctors for two to six years as part of this trial; all three managed symptom-free, nonprogressive vision throughout this treatment process.

Stargardt disease patients have reported significant improvements in both distance and near BCVA with biofeedback therapy that teaches eccentric fixation. One patient noted that after her third dilute echothiophate iodide visit, she could identify a green John Deere tractor parked across from our office! Ultimately, this therapy holds great promise in lessening disability caused by blinding retinal diseases; we aim to expand its use with other patients as well as develop novel approaches.

Treatment

Stargardt disease, an inherited form of macular degeneration affecting the macula of the retina, cannot currently be cured; this disease results in gradual loss of central vision without any loss of peripheral or side vision; it typically appears before age 20. Mutations to ABCA4 gene cause Stargardt.

Mutations in genes produce dysfunctional proteins that cannot perform their energy transport functions, leading to photoreceptor cells being destroyed in the macula, ultimately leading to its central vision loss.

Scientists are researching various treatments for Stargardt macular degeneration, such as gene therapy and stem cell transplantation. Additionally, new medications could potentially halt or slow the progression of disease progression.

At present, doctors can assist people living with Stargardt disease in maintaining their vision by protecting it from ultraviolet radiation and restricting high-dose vitamin A supplements. They may recommend wearing sunglasses and/or brimmed hats when outdoors to minimize sun exposure; conducting electrodiagnostic tests, visual acuity testing, color vision tests to ascertain how much vision remains; conducting fluorescein angiography studies of retina circulation for any leakage of blood vessels that might indicate wet macular degeneration (AMD) symptoms; conducting electrodiagnostic tests can help physicians as well.

Some studies indicate that supplementing with lutein and zeaxanthin may improve vision in those suffering from Stargardt disease. These vitamins contain powerful antioxidants which may protect against macular degeneration as well as other eye ailments; they are abundantly available in fruits, vegetables and seeds.

Stargardt disease could potentially be treated using medication that inhibits an enzyme that breaks down proteins that allow lipofuscin build-up in retinal pigment epithelium cells. The treatment, known as cholinesterase inhibitor, is currently being evaluated in clinical trials among those living with Stargardt and other forms of macular degeneration.