Stargardt disease is an inherited macular dystrophy that causes progressive central vision loss, usually beginning in childhood or adolescence. It is most often associated with changes in the ABCA4 gene and leads to accumulation of toxic by-products in the retina.
Features
People with Stargardt disease typically notice difficulty reading, recognising faces, or seeing fine detail, while side vision remains relatively good. Examination may show yellow-white flecks in the retina and atrophy of the macular region.
- Commonly inherited in an autosomal recessive pattern
- Colour vision and contrast sensitivity can be reduced
- Bright light may feel uncomfortable or reduce visual performance
- Fundus autofluorescence and OCT imaging help characterise retinal changes
Course and Management
There is currently no treatment that stops the underlying degeneration, but visual rehabilitation, magnification, and adaptive technology can help maintain independence. People are often advised to avoid smoking and excessive light exposure, and to use protective eyewear in bright conditions.
- Genetic counselling can clarify recurrence risks for families
- Progression is variable, with some individuals maintaining usable vision into later life
- Low vision services can assist with reading, education, and occupational planning
- Clinical trials are investigating gene-based and pharmacological therapies
