From the Guidelines
Stargardt disease is a genetic eye disorder that causes progressive vision loss, typically beginning in childhood or adolescence, characterized by the degeneration of the macula, with subtle fundus changes initially, often resulting in a delayed diagnosis 1.
Key Characteristics
- Genetic disorder caused by mutations in the ABCA4 gene
- Inherited in an autosomal recessive pattern
- Degeneration of the macula, the central part of the retina responsible for sharp, central vision
- Progressive vision loss, typically beginning in childhood or adolescence
Diagnosis and Management
- Diagnosis may be delayed due to subtle fundus changes initially 1
- Management focuses on monitoring vision changes, providing visual aids, and protecting the eyes from further damage
- Low-vision rehabilitation services may be beneficial to help adapt to vision loss
- Regular eye examinations are important to track disease progression and adjust supportive measures accordingly
Prognosis
- Currently, there is no specific cure or treatment that can stop or reverse the progression of Stargardt disease
- The disease typically leads to legal blindness, but most patients retain some peripheral vision throughout their lives
- Research is ongoing, including gene therapy and stem cell treatments, but these remain experimental 1
From the Research
Definition and Overview of Stargardt Disease
- Stargardt disease, also known as Stargardt macular degeneration, is the most prevalent inherited macular dystrophy 2.
- It is characterized by premature accumulation of lipofuscin in the retinal pigment epithelium (RPE) of the eye and by vision loss 3.
- Stargardt disease is caused by sequence variants in the ABCA4 gene, leading to progressive central vision loss 4, 5.
Clinical Features and Symptoms
- The most common symptoms of Stargardt disease include photosensitivity and central vision decline 6.
- Patients with Stargardt disease experience limitations in physical, mental, social, and role functioning, such as difficulty with sports, frustration, and issues with facial recognition 6.
- These symptoms can be mitigated by coping strategies and support, including the use of electronic devices and setting up routines 6.
Genetic Aspects and Pathogenesis
- Stargardt disease is associated with disease-causing sequence variants in the ABCA4 gene 2, 5.
- The ABCA4 gene plays a crucial role in the visual cycle, and mutations in this gene can lead to abnormal all-trans retinal accumulation in photoreceptor outer segments and in retinal pigment epithelium cells 5.
- The identification of novel pathogenic ABCA4 variants can help broaden the mutational spectrum of the gene responsible for Stargardt disease 5.