Stargardt disease  is the most common inherited single-gene retinal disease. In terms of the first description of the disease, it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision. Signs and symptoms
The presentation usually occurs in childhood or adolescence, though there is no upper age limit for presentation and late-onset is possible. The main symptom is loss of visual acuity, uncorrectable with glasses. This manifests as the lack of the ability to see fine details when reading or viewing distant objects. Symptoms typically develop before age 20 (median age of onset: ~17 years old), and include: wavy vision, blind spots, blurriness, loss of depth perception, sensitivity to glare, impaired colour vision, and difficulty adapting to dim lighting (delayed dark adaptation). There is a wide variation between individuals in the symptoms experienced as well as the rate of deterioration in vision. Vision loss can be attributed to buildup of byproducts of vitamin A in photoreceptor cells and Peripheral vision is usually less affected than fine, central (foveal) vision. Genetics
Historically from Stargardt’s first description of his eponymous disease until recently, the diagnosis was based on looking at the phenotype using examination and investigation of the eye.
On the other hand, the consumption of oily fish, in a diet similar to that which doctors recommend for age related macular degeneration, can be used to slow the progression of the disease.Advances in technology have brought devices that help Stargardt patients who are losing their vision maintain their independence. Low-vision aids can range from hand lenses to electronic devices and can allow those losing their vision to be able to carry out daily activities. Some patients may even opt for in-person services. Prognosis
The long-term prognosis for patients with Stargardt disease is widely variable and depends on the age of onset and genetic alleles.The majority of patients will progress to legal blindness, which means that central reading vision will be lost. However, perimetry and microperimetry studies indicate that the peripheral light sensitivity is preserved over a long time in a significant fraction of all patients (i.e., >50%). Stargardt disease has no impact on general health and life expectancy is normal. Some patients, usually those with the late-onset form, can maintain excellent visual acuities for extended periods and are therefore able to perform tasks such as reading or driving. Epidemiology
A 2017 prospective epidemiologic study that recruited 81 patients with STGD over 12 months reported an incidence of between 1 and 1.28 per 10 000 individuals. The median age of presentation was 27 years (range 5–64 years), most (90%) were symptomatic, with a median visual acuity of Snellen equivalent 20/66. History
Karl Stargardt (1875–1927) was a German ophthalmologist born in Berlin.