Stargardt Eye Disease Treatment

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Stargardt disease is an inherited condition characterized by macular degeneration and progressive loss of central vision, due to lipofuscin accumulation in the retinal pigment epithelium (RPE) due to mutations in ABCA4 gene.

Symptoms of low vision impairment may include difficulty adapting to dim lighting and blurred central vision. There is currently no known treatment, though low vision aids may help you take advantage of your remaining central and peripheral vision.

1. Eye Exercises

Stargardt disease is an inherited form of macular degeneration that results in progressive loss of central vision. It usually develops between childhood and adolescence and affects one in 8,000 to 10,000 individuals, manifesting as blurry or wavy vision, blind spots and difficulty seeing in low light conditions. Stargardt occurs one out of every 10,000 individuals and is the most prevalent form of juvenile macular degeneration (JMD), often with yellow deposits composed of lipofuscin pigment under the retinal pigment epithelial layer.

Stargardt disease causes progressive loss of central vision, impacting reading, driving and other activities that require clear vision such as distinguishing faces or colors in low light or daytime conditions. At first symptoms may seem slight but slowly worsen.

Genetic testing can detect the presence of a mutated ABCA4 gene associated with Stargardt disease and help confirm a diagnosis, while also helping identify carriers who may not present with symptoms themselves, but who could pass it along to their children.

An ophthalmologist with expertise in diagnosing heritable eye diseases such as Stargardt can diagnose it through a comprehensive eye exam that includes visual acuity tests, Amsler grid exams, electrodiagnostic exams and possible blood samples to check for genetic mutations associated with Stargardt disease.

Massachusetts Eye and Ear postdoctoral research fellow Caitlin Collin received a Knights Templar Foundation Career Starter Grant to study how ABCA4 gene editing may prevent Stargardt disease – an essential step toward treating its potentially blinding symptoms.

LBS-008, an innovative oral treatment for Stargardt disease, has completed its phase 2 trial and is enrolling patients for its global phase 3. This first-of-its-kind medication reduces eye toxicity that causes Stargardt disease and dry age-related macular degeneration (dry AMD). By inhibiting activation of RBBP4, an enzyme responsible for transporting vitamin A to retina, LBS-008 reduces levels of toxic byproduct bisretinoid-A2E while safeguarding retinal tissue health.

2. Sunglasses

Sunglasses can be an excellent solution for those living with Stargardt’s, as they help neutralize glare to help improve vision. Not all sunglasses offer equal benefits – look for lenses that are polarized, photochromic or anti-reflective as these will provide more benefit.

Sunglasses come in all shapes and sizes, but all come equipped with frames to hold their lenses in place and rims for stability on your face. The frame itself may be made from plastic, metal or glass; spring and standard hinges may also be included for additional flexibility.

Lenses are the focal point of sunglasses, as they contain your prescription for clear vision. Lenses may be made of glass, plastic or polycarbonate material and secured in their frames using hinges; spring hinges are most frequently seen since they work similarly to door hinges when closing and opening glasses with multiple metal or plastic rims attached.

Though there is no cure for Stargardt disease, there are ways to manage and slow the progression of vision loss. A diet rich in fruits and vegetables and taking antioxidant supplements such as lutein/zeaxanthin can provide some support. Wearing sunglasses to shield the eyes from UV radiation exposure also can help delay progression.

Stargardt’s typically occurs among children or teenagers. Their central visual acuity gradually declines to below 20/200 over time, making it increasingly difficult for them to read, recognize pictures, numbers and letters; recognize faces and facial expressions; drive safely or see objects clearly in dim lighting conditions; fatigue sets in; some may squint to compensate while other symptoms include blurry or distorted vision along with blind spots in their field of vision.

3. Eye Exercises During Sleep

If your child or teen exhibits central scotomas and loss of central vision in Stargardt disease, it is imperative that they visit an ophthalmologist immediately. An eye specialist will diagnose this disease by looking for signs such as fatty deposits under the macula or ineffective cones.

Stargardt disease is caused by sequence variants in the ABCA4 gene, which gives instructions for producing a protein essential in visual cycle processes. This protein transports retinaldehyde which the eye converts into electrochemical signals that allow it to detect light. Mutations within this gene lead to lipofuscin build-up within retinal pigment epithelial cells leading to damage and leading to Stargardt disease.

Autosomal recessive conditions lead to progressive loss of central vision over time. This autosomal recessive disorder typically begins in childhood or adolescence and usually progresses until central visual acuity drops below 20/200 or worse, leaving your child having difficulty reading, recognizing pictures and numbers, driving safely or taking in information from television screens or computer monitors; they may even experience difficulty when adapting to dimly lit environments.

Even though Stargardt eye disease has no cure, treatment options exist that may slow its progress. Wearing sunglasses with wide brims, avoiding direct sunlight, eating diet rich in eye-healthy foods and performing regular eye exercises are all effective ways of helping children manage symptoms associated with it.

LBS-008, an oral medication recently demonstrated effective in a 24-week clinical study of six Stargardt patients, is another promising stargardt eye disease treatment option. The drug works by decreasing and controlling levels of Retinol Binding Protein 4 (RBP4) which plays an essential role in vitamin A entering visual cycles; by restricting RBP4 in eyes LBS-008 helps avoid formation of toxic molecules which contribute to both Stargardt disease and Atrophic Age Related Macular Degeneration development.

One treatment session using echothiophate iodide resulted in significant improvements for this Stargardt patient’s best corrected distance and near visual acuities as well as her color vision, confirmed by both fluorescein-based angiogram imaging and the 10 plate Ishihara test.

4. Vision Therapy

Vision Therapy (VT) is an individualized treatment program which strengthens connections between the eyes and brain, often used to treat visual-motor and perceptual-cognitive deficits. Vision Therapy has proven itself an excellent stargardt eye disease treatment with proven benefits to near and distance vision.

VT (Vision Therapy) is a series of sessions intended to strengthen the ability of both eyes to work as one unit, control eye movement, improve focusing abilities and increase visual efficiency. This therapy may also be effective against conditions like crossed eyes or astigmatism.

Stargardt’s is caused by a genetic mutation in the retina (light processing tissue lining the inside of the eye). It primarily affects macula-rich areas with light-sensing rods and cones; over time Stargardt’s fatty buildup kills these cells, eliminating central vision while still offering useful vision in other parts of the periphery.

Stargardt’s symptoms can worsen over time, but there’s no cause for alarm. While doctors in the past were powerless to help those living with Stargardt’s, new therapies have emerged recently and include using vitamins, nutritional supplements and UV protection; eye exercises, sunglasses and specialized equipment; as well as low doses of echothiophate iodide.

Anti-VEGF medications work by stopping the formation of new blood vessels that could bleed or leak fluid into the macula, and doctors may recommend an injection course of these anti-VEGF medicines to stop wet age-related macular degeneration – when new vessels form and leak fluid into it – from progressing further.

Stargardt’s Disease is an inherited genetic condition that can lead to permanent loss of central vision, typically appearing during the first decade of life. Most patients are diagnosed after visiting an ophthalmologist and having their retinal examination. On an early stage examination, an ophthalmologist may detect fatty deposits or ineffective cones on an early retinal examination; symptoms typically don’t become noticeable until visual acuity drops to 20/40 or lower.

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