Preparing the new community about Stargardt disease 

Stargardt Disease, also known as juvenile macular dystrophy, is a hereditary ocular disorder characterized by macular degeneration. It affects both sex, males and females, and has an estimated prevalence of 1-5 patients / 10,000 inhabitants (Source: Orphanet).

The macula is the central area of ​​the retina providing the maximum sensitivity that allows fine detail vision. The onset of symptoms occurs in adolescence, although in some cases manifestations occur in the first decade of life. The patient reported that slowly is loosing vision almost unwittingly, slowly progressive loss of visual acuity is observed. Some patients may have photophobia as the disease progresses.

The disease is caused by mutations in the ABCA4 gene, which encodes a transmembrane protein that is expressed exclusively in the retinal receptors (called rods and cones), which binds ATP. The ABCA4 gene is inherited in an autosomal recessive manner.

Two variants of the disease are also known, with an autosomal dominant form of Stargardt macular dystrophy caused by mutations in ELOVL4 and PROM1.

Prenatal genetic diagnosis is technically possible but not frequent.

Nowadays, it does not exist a cure for Stargardt disease.

The use of stem cells is one of important line of research, gene therapy and gene replacement, are under development. Other treatment options are related to the use of altered forms of vitamin A that may delay macular lesion (in the lesional mechanisms the called “vitamin dimers” have an important role)

Preventive measures to slow the progression of the disease include avoiding excessive exposure to light using sunglasses and the avoidance of vitamin A supplements. Regular ophthalmologic evaluations are recommended by ophthalmologists experienced in this disease.

Due to the clinical variability, the prognosis depends on several parameters such as age of onset, electrophysiological findings and imaging tests … that can help physicians to monitor the evolution of the disease. In some cases, Stargardt disease can progress rapidly over a few months or gradually over several years to severe decrease in visual acuity. Generally, peripheral vision is not affected.

We are interested in learning more about the different forms of the disease, factors associated with their development over time and its progression into adulthood. That is why we are openning, in the near future, a community for its clinical research in Rare Commons.

For the opening of the community, families may accomplish some requirements:

• Register with the registration form and follow the procedure to refer the Hospital Sant Joan de Déu Informed Consent for participation in the research project.
• Contact with the ophthalmologist assisting the patient (and geneticist if there is one also assisting the patient / family) to invite them to participate and benefit from a participatory research initiative on our Rare Commons platform.

In case of any question about the procedure, the research method or other issues please contact the email inbox of the technical team of Rare Commons: [email protected]

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(Image: retinography flavimaculatus fundus with macular involvement. Source: Diario Médico).