Central Areolar Choroidal Dystrophy (CACD)

What is Central Areolar Choroidal Dystrophy?

Central Areolar Choroidal Dystrophy (CACD) is a genetic condition characterized by progressive atrophy of the central retina. The atrophy appears as a well-defined, round area of tissue loss centered on the macula, which expands slowly over time, creating an increasing central blind spot.

Cause

CACD is most commonly associated with mutations in the PRPH2 gene (also known as peripherin-2), which encodes a protein essential for the structural integrity of photoreceptor outer segments. Mutations lead to photoreceptor degeneration and subsequent choroidal atrophy.

Symptoms

• Progressive loss of central vision
• An expanding central blind spot (scotoma)
• Difficulty reading and recognizing fine detail
• Typically begins in the 30s–40s
• Peripheral vision generally preserved in earlier stages

Progression

CACD typically presents in a patient's 30s or 40s and progresses gradually over decades. The central area of atrophy expands slowly, and patients often retain some functional peripheral vision for many years.

Treatment at Our Center

Our center offers Stem Cell Therapy protocols tailored for CACD patients. The aim is to slow the rate of retinal atrophy and support remaining photoreceptor function. Treatment is most effective when initiated before extensive central atrophy has developed.

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