Stargardt juvenile Macular Degeneration (JMD), an inherited condition, affects the retina – the light-sensitive tissue at the back of your eye that receives light to function as light passes through it – by breaking it down so it no longer functions correctly. This leads to poor vision.

Young adults experiencing central vision loss due to migraine are at greater risk. While their initial visual acuity may remain near normal, progression could result in central vision impairment that makes it hard to read, drive, or recognize faces.

Diagnosis

Age-related macular degeneration is the primary cause of central vision loss in older adults; however, inherited forms can manifest earlier and be hard to diagnose. Some inherited diseases include Stargardt disease, Best disease, retinitis pigmentosa and X-linked retinoschisis; they share symptoms like drusen formation, geographic atrophy, macular hyperpigmentation and choroidal neovascularization with AMD.

These hereditary diseases arise due to mutations in various genes. Their inheritance patterns may range from autosomal recessive (Stargardt disease, STGD) and autosomal dominant inheritance patterns such as cone dystrophy, adult vitelliform macular dystrophy, Doyne honeycomb dystrophy and North Carolina macular dystrophy to Sorsby macular dystrophy), X-linked inheritance (retinoschisis) or mitochondrial inheritance (maternally inherited retinal degeneration, MIDD).

Stargardt disease occurs when mutations of the ABCA4 gene lead to deposits of yellowish lipofuscin that accumulates in the macular region of the eye – responsible for central and color vision – on its macular layer. While this clump of fat causes central vision to decline, patients generally retain good peripheral (side) vision. For those living with Stargardt disease it is crucial not to take supplements containing vitamin A since this may expedite disease progression.

Your ophthalmologist will use tests such as electroretinograms and optical coherence tomography (OCT) to evaluate your retina and macula, including early changes to retinal cells that could confirm diagnosis. A fluorescein angiography dye test can also be performed to detect areas of leakage from blood vessels beneath the retina, while genetic testing can help establish which form of Juvenile Macular Degeneration you have.

Dependent upon their genetic mutations, people living with Stargardt disease may develop new blood vessels in the macula that cause swelling and bleeding similar to wet AMD. Treatment usually entails injecting antibodies that block vascular endothelial growth factor; additionally it’s recommended that individuals living with this disease wear protective eyewear such as hats and sunglasses when exposed to bright light, supplement their diets with antioxidants, and avoid taking too much vitamin A.

Symptoms

Stargardt juvenile macular degeneration is an eye condition characterized by the gradual degradation of the macula, the part of the retina responsible for central vision and fine detail perception. People living with Stargardt juvenile macular degeneration typically experience blurry or distorted central vision as the disease advances; eventually reading, driving or seeing other details becomes difficult or even impossible altogether. Although most often occurring between childhood and adolescence this condition may manifest later on.

Stargardt disease sufferers may notice that the center of their field of vision appears blurry or wavy due to photoreceptors in their macula dying off and losing the ability to detect light. They will still be able to use peripheral vision but won’t be able to use their macula for central vision – this may make recognizing faces or seeing fine details difficult as well as difficulty seeing fine details.

Ophthalmologists use an ophthalmoscope to diagnose this condition during dilated eye exams. An ophthalmologist may observe elongated white, branching flecks composed of lipofuscin that build up in the macula and block its view as it accumulates there, blocking access to blood vessels underneath the retina (choroid).

Stargardt disease’s other signs include macula that appears like “beaten metal” and atrophy of retinal pigment epithelium. People suffering from Stargardt often also have fluid-filled sacs resembling egg yolks in the macula area as well as yellow spots scattered throughout their retinal tissue.

Researchers have linked Stargardt disease with mutations of the ABCA4 gene. This gene normally facilitates transport of used vitamin A out of photoreceptor cells in the retina; without this process, used forms remain within retinal photoreceptor cells and contribute to lipofuscin formation. People inheriting two copies of this mutation may become affected with Stargardt disease; those inheriting only one copy remain carriers without experiencing any vision loss.

Stargardt juvenile macular degeneration cannot be cured, but people can take steps to slow its progress and halt further progression. Protecting one’s eyes from sunlight by wearing sunglasses or a wide brim hat may help. Also avoid taking supplements containing too much vitamin A since too much vitamin A could accelerate macular degeneration in those suffering from this condition.

Treatment

Stargardt disease is caused by genetic mutation, leading to an accumulation of toxic lipofuscin that over time damages retinal pigment epithelium (RPE) cells and photoreceptors resulting in central vision loss (1); peripheral (side) vision typically remains intact (1). Furthermore, Stargardt may lead to yellow flecks around macula regions and atrophy (2).

Stargardt macular degeneration leads to gradual vision deterioration over time; its progression varies widely depending on when it first appeared (3). People diagnosed early often see quicker progression than those diagnosed later (4).

Low vision aids may help individuals manage everyday activities. Regular visits to an optometrist who can recommend appropriate devices are crucial (5).

Other treatments may also be effective for some individuals living with Stargardt disease, including taking antioxidant-rich dietary supplements (6) and increasing intake of vitamins A, C and E to delay disease progression (7).

Individuals living with this condition should ensure they practice good eye care by avoiding smoking, excessive sun exposure and high blood pressure (8). They should also be aware that reading may become difficult in dim or dim lighting conditions and use magnifying devices if necessary (9).

Stargardt disease does not yet have a cure, but there are ways of alleviating its symptoms, including using low vision aids to increase vision abilities and adapting lifestyle choices to accommodate visual limitations (10). A patient’s quality of life may also be greatly enhanced by having strong support networks in place as well as engaging in activities which provide meaning and purpose (10). Setting goals for independence such as reading books or watching TV through low vision aids as well as maintaining an active social life (12).

Prevention

Stargardt disease (STGD) is an inherited condition that impacts the macula, an area at the center of retina which allows you to see fine detail and color. People living with STGD develop a yellowish deposit called lipofuscin on their macula that causes central vision loss – though its progression cannot be predicted with certainty.

Researchers are developing several prevention strategies for macular degeneration. These include restricting vitamin A consumption to prevent toxic byproduct build-up that could accelerate vision decline; wearing sunglasses and hats with wide brims to protect eyes from bright sunlight; quitting smoking as it exacerbates conditions like macular degeneration; eating healthy diet rich in fruits and vegetables, as well as visiting an eye specialist every two years.

No treatment for STGD has yet been approved by the Food and Drug Administration; however, several research studies are in progress. People living with this disease who carry certain gene mutations could participate in ProgStar study that investigates its natural course.

People living with macular degeneration typically develop what’s known as come and go vision, meaning objects will appear and then disappear again as they shift within their blind spot. People can often learn how to compensate for this condition, so it is crucial that family members understand this is an adaptive strategy rather than any sign of mental or emotional issues.

Some forms of macular degeneration are passed on via autosomal recessive inheritance, meaning two copies of the gene variation for its development to occur; examples include Stargardt disease, Best macular degeneration and X-linked juvenile retinoschisis. More frequently however these conditions are being found that are dominantly inherited – where only one copy is necessary to manifest as disease.