Stargardt disease

Stargardt disease is an inherited retinal disorder that progressively damages the macula, often beginning in childhood or adolescence and impairing central vision.

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ABCA4: ABCA4 is a retinal cell protein that transports retinoid compounds across photoreceptor disc membranes. Most Stargardt disease is caused by variants that impair this transporter in photoreceptors.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when disease usually requires pathogenic variants in both copies of a gene. The common ABCA4-associated form follows this inheritance pattern.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with inherited conditions. It can confirm ABCA4-related disease and clarify inheritance for families.
Best vitelliform macular dystrophy: Best vitelliform macular dystrophy is an inherited macular disorder commonly caused by variants in BEST1. Its vitelliform lesions and genetic cause distinguish it from typical ABCA4-associated Stargardt disease.
ABCA4 gene therapy: ABCA4 gene therapy seeks to deliver a functional ABCA4 gene to retinal cells. The gene's size makes delivery a central technical challenge in treating Stargardt disease.
Visual cycle: The visual cycle is the set of reactions that regenerates light-sensitive retinal for vision. ABCA4 dysfunction disrupts retinoid handling during this cycle.
Cone cell: A cone cell is a photoreceptor specialized for color vision and sharp vision in bright light. Macular injury particularly affects cone-mediated central vision.
Electroretinography: Electroretinography measures the electrical responses of the retina to light. It helps assess whether dysfunction extends beyond the macula.
Pattern dystrophy: Pattern dystrophy is a group of inherited retinal disorders marked by patterned pigment changes in the macula. Its fundus patterns can resemble Stargardt disease, but it often involves different genes.
Retinal gene editing: Retinal gene editing uses molecular tools to alter DNA in cells of the eye. Researchers are exploring whether it can correct disease-causing variants without replacing the full gene.