Disease name: Stargardt Disease

ICD-10 Disease Code: H35.53 - Other dystrophies primarily involving the sensory retina

ICD-10 Disease Group: H35 - Other retinal disorders

Stargardt disease is a rare genetic eye disorder that primarily leads to progressive central vision loss, while peripheral vision often remains intact. It is the most common form of juvenile macular degeneration, the signs and symptoms of which begin in childhood. It typically manifests in childhood or early adulthood, though it can develop later in life.

The disease affects the macula, a small part of the retina crucial for detailed vision needed for tasks such as reading and recognising faces. 

Stargardt disease can arise through more than 1,000 mutations in the ABCA4 gene, which encodes a protein involved in the visual cycle and transportation of toxic photoproducts out of the retina. More rarely, the disease arises through mutations in the ELOVL4 (elongation of very long chain fatty acids-4) gene, which is expressed in the retina.

Stargardt disease is estimated to affect approximately 1 in 6,500 individuals globally.

Stargardt disease primarily affects central vision, leading to symptoms such as blurry vision and difficulty with tasks requiring detailed sight, such as reading or recognising faces. Night blindness, or difficulty adapting to low-light conditions, is also common. Many individuals experience photophobia. While central vision progressively worsens, peripheral vision generally remains unaffected. The severity and speed of progression can vary, but the gradual loss of vision is a hallmark of the disease.

There is currently no cure for Stargardt disease or other ABCA4-related retinopathies. Management focuses on slowing the degenerative process, addressing complications, and providing visual rehabilitation. Additionally, support is offered to help patients cope with the social and psychological challenges associated with vision loss. To slow disease progression, preventive measures include wearing sunglasses to reduce overexposure to visible light and avoiding vitamin A supplements. Regular eye exams are also recommended. 

• https://www.icd10data.com/
• https://www.orpha.net/consor/cgi-bin/index.php
• https://rarediseases.org/
• https://medlineplus.gov/genetics/
• https://www.cdc.gov/

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