Stargardt disease is an inherited disorder that attacks the macula of the retina and leads to loss of central vision as well as distortion of color perception.

This condition is caused by a mutation of the ABCA4 gene, leading to decreased capacity of eyes to absorb vitamin A.

Symptoms

Stargardt disease is an hereditary condition characterized by loss of central vision due to fatty deposits on the macula (the small area of retina required for sharp, detailed visual acuity). This usually begins during childhood or adolescence but it can appear at any age – typically progressing slowly without leading to total blindness.

Stargardt disease is caused by genetic mutations within the ABCA4 gene, which provides instructions for producing a protein essential to converting light energy into electrochemical signals in the retina. Due to these mutations, an abnormal version of this protein no longer transports retinaldehyde needed for conversion; consequently this leads to lipofuscin accumulation within retinal pigment epithelial cells which degenerates over time, leading to gradual vision loss and degeneration.

People living with Stargardt’s Disease typically develop central scotomas – rings of distorted or blurry areas around their central vision – that interfere with driving or reading; their peripheral vision remains intact however. Gradually, these central scotomas become more significant until eventually it affects daily tasks, leading to decreased ability to perform them.

People living with Stargardt’s may develop new blood vessels in their macula that leak and bleed, similar to wet age-related macular degeneration (AMD). Eye doctors will monitor these changes with UV protective sunglasses, restrictions on vitamin A supplementation, regular ophthalmoscopy exams and fluorescein angiography scans.

Stargardt’s can be devastating for children and teens, especially when they realize they will gradually lose their vision over time. It is important to make them understand that this reaction is natural as there are resources available for support including connecting them with other families who also have Stargardt’s children as well as professional counseling services.

Diagnosis

Stargardt disease, more commonly referred to as fundus flavimaculatus, is an inherited form of macular degeneration affecting the macula (part of retina that provides central vision and color perception), often beginning early adolescence. Symptoms may include difficulty seeing objects in low light conditions, lack of detail in center vision areas and difficulty differentiating colors from each other.

Stargardt disease is genetic, passed down from parent to child through mutations of the ABCA4 gene. Usually affecting both eyes, symptoms typically appear between childhood and adolescence but sometimes appear later – often misdiagnosed as age-related macular degeneration. Diagnosis typically includes clinical examination, retinal imaging and genetic testing.

Stargardt’s macular degeneration results in the gradual loss of central vision while peripheral vision remains undamaged, typically as a result of damage to retinal photoreceptor cells – responsible for sharp, detailed vision – by abnormal proteins which prevent nutrients and waste from passing freely between inner and outer layers of retina.

Macular degeneration symptoms tend not to be as severe, yet central vision loss may still make reading, driving a car and performing other daily tasks difficult. Low-vision aids can provide invaluable help and independence for patients living with this disease.

Stargardt disease patients can slow its progress by following a healthy diet, using low-vision aids such as magnifying glasses or telescopes for reading computers, and receiving regular ophthalmologic evaluations. Wearing sunglasses equipped with UV protection regularly is also vital; taking vitamin A supplements may also help slow its progress.

Treatment

Stargardt’s disease cannot be cured, but there are various therapies to slow its progress and limit progression. These include visual aids, regular ophthalmologic exams, eating diet rich in vitamin A and using sun protection to avoid sun exposure that increases vitamin A dimers (fats).

Stargardt’s symptoms result from abnormal accumulations of fat under the macula, which contains high concentrations of light-sensing rods and cones responsible for central vision and color perception. Over time, however, these cells degenerate, decreasing central vision.

Stargardt’s typically begins to affect people during childhood or adolescence and becomes noticeable around 20/20-20/400 or lower; useful vision may persist for some time but eventually levels off at 20/20-20/400 or less, unlike with other forms of macular degeneration where peripheral vision remains intact.

Symptoms of Stargardt’s are generally limited to the central area of one’s field of vision, impacting activities such as driving, reading, and recognizing faces or objects. Depending on the degree of vision loss, these activities may become difficult or impossible; people living with Stargardt’s often have trouble adapting to darker environments after spending time outdoors; however they usually manage bright lighting by altering contrast settings on television and computer screens.

Though Stargardt’s can cause irreparable damage to eyesight, various experimental therapies are being investigated in an attempt to mitigate its impact. These include medications to decrease lipofuscin accumulation, complement inhibition and retinal pigment epithelial cell regeneration; additionally recombinant gene therapy targeting ABCA4 may offer hope as a treatment.

Clinical trials for Stargardt’s have been conducted, and their outcomes are promising. Unfortunately, however, these experiments are still in early stages and could take some time before leading to a viable treatment for the condition. Meanwhile, children and teenagers diagnosed with Stargardt’s should connect with others living with similar issues, seek counseling services as needed and try living life despite their diagnosis – while remembering there are several therapies underway which might offer solutions in time.

Prevention

Stargardt disease is a form of macular degeneration that most commonly affects young people. It typically begins developing between early childhood and adolescence and results in gradual central vision loss. Although there are no preventive treatments for Stargardt disease, you can still take steps to slow its progress; such as getting regular eye exams by an ophthalmologist specializing in retinal diseases as well as informing your physician of any family histories of macular degeneration so they can diagnose it early enough for treatment.

Gene mutations are responsible for most cases of Stargardt disease. The ABCA4 gene contains instructions for creating a protein which assists in disposing of waste products produced during Vitamin A processing in the eye, but when this gene malfunctions it causes waste accumulation in the macula which damages photoreceptor cells responsible for sending visual signals back to the brain, and central vision becomes blurry and distorted as a result.

Researchers from Belite Bio recently conducted a study which demonstrated how their drug LBS-008 could significantly improve vision in Stargardt disease patients. It works by binding to retinal binding protein 4 and decreasing autofluorescence in the retina – an indicator of macular degeneration. On average, patients treated with LBS-008 saw their vision improve by five to 10 letters on average.

Protecting your eyes from UV rays is essential, since UV radiation can speed up vision loss due to Stargardt disease. A healthy diet should include leafy green vegetables and fish to provide essential nutrition that the retina requires in order to function optimally.

Low-vision aids may also be beneficial in managing vision loss from Stargardt disease. Such aids include magnifying glasses, telescopic lenses and software which reads printed text aloud to those with impaired vision. Other useful tools may include electronic magnifiers and speech-to-text programs on smartphones and tablets.

Researchers have been exploring ways to halt the progression of Stargardt disease and other inherited blinding disorders. One promising treatment option is antisense oligonucleotides therapy; this RNA treatment targets its gene that causes Stargardt by attaching itself to its protein product and blocking its activity.