AIPL1

Description

The AIPL1 gene (Apoptosis-inducing factor 1-like 1) is crucial for the proper development and function of the retina, the light-sensitive tissue at the back of the eye. It encodes a protein that plays a vital role in mitochondrial function and the regulation of programmed cell death. Mutations in AIPL1 can lead to a range of retinal diseases, including Leber congenital amaurosis (LCA), a severe form of inherited retinal dystrophy.

Associated Diseases

• Leber congenital amaurosis (LCA)
• Retinitis pigmentosa
• Cone-rod dystrophy
• Early-onset retinal degeneration

Did you know?

AIPL1 mutations are responsible for approximately 10% of LCA cases, making it one of the most common genetic causes of this severe eye disorder.