Choroidal Dystrophy, Central Areolar

Background and History: 

A number of inherited disorders impact a special area of the retina (the light sensing tissue inside the eye) known as the macula.  This area contains the highest concentration of cells, known as rods and cones, which respond to light.  Consequently, this is the area we use for our sharpest vision and when it is damaged, we suffer vision loss. 

Clinical Correlations: 

In choroidal dystrophy of the central type described here, the disease seems to be limited to the macular area of the retina.  Mild symptoms of blurred vision may be experienced by adolescents during the second decade of life but the disease progress is slow and highly variable.  In early stages your eye doctor may only see some mild pigment changes but later the pigment is lost together with a layer deep to the retina known as the choriocapillaris.  Even so, visual loss proceeds slowly and many patients in the 6th and 7th decades of life may have functional vision but with blind spots and loss of color perception.  Others, however, are legally blind by that age.  The appearance of the retina can resemble the far more common disorder known as age-related macular degeneration. 

Genetics: 

Mutations in several genes have been found in this condition.  Both autosomal dominant and autosomal recessive inheritance patterns occur.  Only your eye doctor can determine the pattern and recurrence risks for your family. 

Diagnosis and Prognosis: 

This disorder is limited to the eye and the diagnosis can only be made by your eye doctor.  He or she may order a special test called an electroretinogram (ERG) to improve the accuracy of his diagnosis.  Lifespan is normal and visual function can be improved with the use of low vision aids. 

Additional Information
Inheritance/Pedigree: 
Autosomal dominant
Autosomal recessive