Stargardt’s disease is a progressive eye condition. Central visual acuity gradually declines during childhood or adolescence and eventually levels off around 20/200.

Stargardt’s patients may require low vision aids to enhance their quality of life. Your physician can assess your vision through tests such as Amsler grid testing, Snellen chart testing, color evaluation testing and fluorescein angiography.

Laser Treatment

Laser treatment uses high-intensity light to penetrate the eye and promote healing processes, providing pain relief from conditions such as retinal tears or detachments as well as improving visual clarity and speeding recovery after eye surgery or trauma.

Laser treatments may be utilized in the treatment of eye diseases, including Stargardt disease. These procedures seal off leaking blood vessels to help prevent further loss of vision; however, these therapies cannot restore lost sight or halt progression of disease progression.

Stargardt disease causes gradual degradation to central vision, impairing one’s ability to see fine details. This hereditary disorder affects a specific part of the retina called the macula that contains high concentrations of light-sensing rods and cones responsible for providing the sharpest resolution visual images. Stargardt may lead to severe visual impairment; however, useful vision may still exist in some patients.

Mutations in the ABCA4 gene cause protein accumulation that prevents essential nutrients and waste from reaching and leaving the macula, leading to faster vision loss. A promising experimental drug, currently in Phase 2 clinical trials for treating Stargardt disease, works by blocking formation and accumulation of excessive vitamin A toxic by-products.

This experimental treatment can be taken orally and directly administered to the retina to block excess vitamin A toxic by-product formation. It has received orphan drug status from both FDA and European Medicines Agency.

Cholinergic medications, like echothiophate iodide, have long been employed as part of the treatment for glaucoma and strabismus. Cholinergic medicines work by increasing levels of acetylcholine found in both retinas and brains – this chemical plays an essential role in transmitting visual signals between eyes and brain. When taken topically using these cholinergic medicines it results in enhanced vision through improved transmission rates between retinas and brains.

This case study illustrates an impressive early and sustained improvement in visual acuity and color vision achieved by a Stargardt Disease patient treated with low dose echothiophate iodide (0.015%); an outstanding feat given how this disease progresses into legal blindness without intervention.

Stem Cell Transplant

Stem cell transplant is currently the most advanced therapy available for stargardt disease patients. Stem cells are special cells with the potential to transform into other kinds of cells such as brain, bone or eye cells – researchers hope that in time they may use these stem cells to replace damaged or diseased cells and restore vision in those suffering from Stargardt Disease.

One trial saw doctors using retinal pigment epithelial cells derived from human embryonic stem cells to treat two patients suffering from stargardt macular degeneration. These cells replaced damaged retinal pigment epithelium and restored vision for one individual; improvement occurred for another patient while her vision remained poor; The Lancet published their research.

Clinical trials utilizing induced pluripotent stem cells (iPS) as a potential treatment for macular degeneration are underway, and researchers hope these cells can differentiate into retinal pigment epithelial or photoreceptor cells to restore vision in those suffering from macular degeneration.

Stem cell transplant is a form of blood cell therapy that utilizes bone marrow or peripheral blood stem cells to replace damaged or diseased cells in the body and strengthen its immune system to fight cancer and other illnesses. Also referred to as “cellular immunotherapy” or autologous hematopoietic stem cell transplantation.

Stem cells can come from several sources: one’s own bone marrow or blood, as well as from genetically compatible donors; if none exist, hematopoietic stem cells can also be harvested from umbilical cord blood.

At the outset of any stem cell transplant, a hematologist must collect the patient’s hematopoietic stem cells using a thin flexible tube inserted in their neck vein or chest vein or groin vein and placed into one or more veins; using an automated machine, blood is drawn out while extracting only stem cells; returning any remaining blood back into their bodies as part of an infusion procedure.

Once transplanted, hematopoietic stem cells travel directly to the bone marrow where they begin multiplying and replacing damaged or diseased hematocytes. At this stage, your hematologist may prescribe drugs to prevent rejection of transplanted cells or complications such as graft-versus-host disease.

Low Vision Aids

Stargardt disease occurs when abnormal fat deposits form under a section of retina called the macula, an area with high concentrations of light-sensing cells called rods and cones responsible for central vision. The macula is essential for reading, recognizing faces, but as fat deposits accumulate under the retina and cones become dysfunctional over time (usually occurring between childhood and adolescence), central vision deteriorates over time; initially useable vision may persist for some time but eventually, those living with Stargardt will experience difficulty reading, driving cars or adapting to dim lighting environments.

Low vision aids may help those living with genetic forms of Stargardt’s condition enjoy a higher quality of life. A specialist can design devices to assist the individual with Stargardt’s in working, playing and socializing in different environments; such devices may include magnifiers, electronic reading devices or adaptive technologies; an agency for visually impaired can also offer guidance in using such devices.

Stargardt’s is a genetic form of macular degeneration that attacks the retinal pigment epithelium (RPE). This form can lead to blindness in both eyes, caused by mutations of ABCR gene. ABCR plays a pivotal role in producing drusen and lipofuscin accumulation in RPE layers – hallmark features of Stargardt’s and dry age-related macular degeneration.

This 36-year-old female suffers from severe Stargardt’s disease. Her best corrected visual acuity in both eyes is count fingers; OCT images reveal atrophy of retinal pigment epithelium cells and regions with hypoautofluorescence.

A clinical trial has recently been initiated to assess the safety and efficacy of a drug that stimulates eye cells’ production of docosahexaenoic acid (DHA), an essential nutrient known to slow macular degeneration including Stargardt disease. If you or someone in your family suffers from Stargardt, ask their physician if you may qualify to join this research study; currently accepting participants. The trial has US orphan drug designation as well as rare pediatric disease designation and enrollments are currently ongoing.

Genetic Testing

Genetic testing is a way of determining if someone carries a gene mutation that could contribute to disease development. Genetic tests involve analyzing DNA fragments, gene products or chromosomes of an individual to gain information on their genetic makeup; this may reveal potential vulnerabilities or disabilities associated with certain illnesses or conditions as well as confirm or deny potential diagnoses.

Retinal specialists often wish they could incorporate genetic testing into their medical practices more readily, yet are struggling to meet demand for this service. Some physicians address this by teaming up with genetic counselors who help collect detailed family histories, provide prognostic and genetic counseling and review test results. Genetic counselors may also coordinate additional testing of family members as well as enroll them into research or patient registries or discuss clinical trials in which a patient might qualify.

Mutations to the ABCA4 gene cause Stargardt eye disease. This gene provides instructions for manufacturing a protein critical for vision processing; in particular, retinaldehyde helps convert light to electrochemical signals in retinal pigment epithelial cells; when this protein becomes dysfunctional it leads to an accumulation of lipofuscin deposits in retinal pigment epithelial cells which leads to vision loss due to progressive macular degeneration and drusen formation, hallmark features of Stargardt.

Ophthalmology conducted a comprehensive analysis on data from 71 late-onset Stargardt disease patients. Their team reviewed their phenotype, best corrected visual acuity and genetic makeup; most harbor one severe and one mild ABCA4 variant; further research could lead to improved diagnosis as well as avoidance of misdiagnoses.

Researchers are developing gene therapy treatments to combat Stargardt disease by restoring the function of ABCA4 gene. At Angiogenesis, Exudation and Degeneration 2022 virtual conference hosted by Bascom Palmer Eye Institute, Professor Carel Hoyng of Radboud University Centre discussed antisense oligonucleotides that target ABCA4. AONs may prevent production of proteins responsible for progression and stop progression altogether.