ABCA4 : ATP binding cassette subfamily A member 4

ABCA4 Gene: A Guardian of Vision

Description:

The ABCA4 gene holds the blueprint for a crucial protein located in the retina, the light-sensitive lining at the back of our eyes. This protein, aptly named ABCA4, plays a vital role in maintaining healthy vision by protecting the delicate photoreceptor cells from damage.

Associated Diseases:

Mutations in the ABCA4 gene have been linked to several eye diseases, including:

• Stargardt Disease: This inherited condition causes progressive vision loss in children and young adults.
• Cone-Rod Dystrophy: A rare disease characterized by gradual degeneration of both cone and rod photoreceptors, leading to vision impairment.
• Macular Degeneration: A common age-related condition where the central part of the retina (macula) deteriorates, resulting in blurred or distorted vision.

Did you Know ?

According to the National Eye Institute, approximately 1 in 10,000 individuals has a mutation in the ABCA4 gene, making it one of the most common genetic causes of inherited retinal diseases.