Stargardt Eye Disease Treatment

Stargardt disease is an inherited form of macular degeneration caused by mutations in the ABCA4 gene. Over time it leads to central vision loss, eventually leading to blindness.

Most severely, AMD affects the retina (light-processing tissue lining the inside of our eye) most severely, particularly its macula region which helps us see fine details and distinguish colors.

Diagnosis

Stargardt disease, a genetic condition, impacts the retina (light processing tissue lining the inside of the eye) specifically the macula region of it. This region houses the highest concentration of cone cells essential for central vision and color perception, yet these degenerate over time as an individual with Stargardt disease suffers. Although useful vision may remain for some years thereafter, eventually enough photoreceptors from within the macula will have been lost that vision drops down to 20/200 or worse.

Central vision loss caused by Stargardt disease is characterized by yellow deposits under the retinal pigment epithelium (RPE). These lipofuscin deposits accumulate over time and destroy cell function of RPE cells, eventually leading to central vision loss. An ophthalmologist will then conduct an eye exam using a slit lamp, fundus exam including Ishihara color plate test and fluorescein angiography to identify any areas with abnormal RPE growth.

Stargardt’s disease is hereditary condition caused by mutations to ABCA4, a gene responsible for processing vitamin A; when not working correctly, Stargardt’s patients’ excess fatty material deposits under retinal pigment epithelium in yellowish clumps that kill RPE cells and destroy central vision.

Some individuals with Stargardt’s disease can be helped through laser surgery to seal leaky blood vessels in the retina, however this does not restore vision or stop progression of disease. People living with Stargardt’s should protect their eyes from bright light and UV rays while eating healthily with plenty of vitamin A, C and antioxidants such as lutein and zeaxanthin – as well as low vision aids like magnifying glasses and telescopes which may assist some people remain independent and maintain independence.

LBS-008 has shown promise in slowing the progression of Stargardt’s disease. The drug works by targeting its source: vitamin A by-products that trigger the death of retinal cells. LBS-008 was granted orphan drug status in both the US and EU and is being studied as part of a Phase 2 clinical trial for Stargardt’s and other macular degeneration disorders.

Symptoms

Stargardt disease (also called juvenile macular degeneration) is a genetic condition that leads to gradual loss of central vision in children and young adults, typically over time. It causes lipofuscin deposits in the retina that build up over time, possibly damaging cells responsible for central vision and color perception within the macula (center area responsible for central vision and color perception). Symptoms often begin appearing early childhood or adolescence and worsen over time; although this disease does not cause blindness directly, those affected often struggle reading, driving, recognizing faces/colors etc.

Diagnose Stargardt disease with several eye exams, including visual acuity tests and Amsler grid monitoring of leakage from retinal blood vessels. Other diagnostic tools may include electroretinography (ERG), optical coherence tomography, and fluorescein angiography; an ophthalmologist specializing in retinal diseases can use these exams to devise the most appropriate treatment plan.

Stargardt disease symptoms vary between individuals, but typically involve blurred or distorted vision that resembles foggy images, text that is readable but difficult to focus on and difficulty reading in dim lighting conditions. Colors may also become difficult to differentiate and seem faded or washed out.

Genetically, Stargardt disease is caused by mutations to the ABCA4 gene that provides instructions for making a protein called retinaldehyde transporter protein that transports retinaldehyde into a light-sensitive layer called retinal pigment epithelium (RPE). Due to these mutations, RPE overproduces retinaldehyde and lipofuscin, eventually leading to vision loss over time. Most cases of Stargardt disease are inherited in an autosomal recessive manner, meaning both copies must contain mutations for it to manifest.

Although no cure exists for AMD, some treatments may help slow its progress; tinted lenses and vitamin supplements are common options for slowing vision loss. Others experience mild improvements using echothiophate iodide; this drug works by blocking an enzyme responsible for breaking down acetylcholine, increasing endogenous levels, and allowing more of it to enter retina cells.

Treatment

Stargardt’s disease causes progressive vision loss as fat deposits build up abnormally underneath the retinal pigment epithelium (RPE). Over time, your child will see their central visual acuity gradually and sporadically decline; reading, recognizing numbers or letters on television screens or computers or tablets/phones, reading faces with facial expressions accurately, driving safely around obstacles in their environment or adapting visually after spending time outdoors under bright sunlight can all become increasingly challenging for them. They may have difficulty adapting visually when coming back into dark environments after spending time outdoors under sunlight!

Mutations in the ABCA4 gene lead to an insufficient supply of vitamin A into and out of the RPE, leading to excessive accumulation of lipofuscin waste substance in Stargardt disease’s RPEs – where it forms drusen as its hallmark feature.

Although there is no cure for Stargardt’s, certain treatment options can help slow its progress. Your eye doctor may suggest wearing sunglasses with UV protection and restricting dietary supplements that contain too much vitamin A, as these substances have been found to accelerate vision loss in patients living with Stargardt’s.

Treatment options also include medications and interventions designed to decrease inflammation and stabilize retinal blood vessels (e.g., anti-complement system medications, vascular endothelial growth factor inhibitors (VEGF), stem cell transplantation). Low vision aids may also help amplify what little peripheral vision remains.

Recent case study results highlighted a patient with Stargardt disease who experienced early and sustained improvement in vision after using echothiophate iodide, a topical cholinergic agent. This medication works by inhibiting the enzyme acetyl cholinesterase to increase endogenous levels of acetylcholine (ACh), thus enabling remaining photoreceptors and ganglion cells to reach threshold and resume transmitting visual information back into their respective brains; similar mechanisms are used when treating glaucoma and presbyopia; results from other clinical studies give hope that future therapies might treat Stargardt’s.

Prevention

Stargardt disease (STGD) is an inherited macular degeneration condition which typically impacts younger people, often manifested through progressive loss of central vision. Additionally, patients can struggle to identify colors and fine details – this disorder should be diagnosed by either an ophthalmologist or eye doctor familiar with STGD.

Disorder is caused by mutation in the ABCA4 gene, which provides instructions for producing a protein to clear away waste materials from the retina (the layer of tissue at the back of eye). When this gene malfunctions, protein production ceases and fatty substances begin to build up beneath macula. Over time, these build up kill cells that sense light and transmit visual signals to brain; central vision becomes blurry or distorted as these cells die off.

No cure exists for macular degeneration; however, treatments exist which may delay its progress and slow vision loss. Regular eye exams are key in order to detect early symptoms and begin treatment immediately; additionally it’s also vital that people avoid UV rays and consume a nutritious diet.

Genetic counseling can assist those living with Stargardt disease to understand its inheritance pattern and risk for passing it onto future generations. Counseling services also assist couples considering starting families in determining whether genetic testing may be needed for the condition.

Laser treatments may help seal leaking blood vessels in the retina and restore lost vision, while low vision aids such as magnifying glasses and telescopes may be utilized to help use what remaining vision there may be. Low vision software for computers and smartphones as well as reading magnifiers and large print books may also be of great assistance. Low vision specialists also provide instruction on how to perform daily tasks with limited vision such as cooking or driving safely.

Research efforts are currently ongoing in an attempt to find an effective treatment for the disease, and scientists hope that understanding its genetic causes will aid them in creating novel therapies in the near future.