Bietti’s Crystalline Dystrophy

What is Bietti’s crystalline dystrophy?

Bietti’s crystalline dystrophy is a condition characterized by progressive vision loss due to the accumulation of fatty compounds in the retina. 

It is estimated that one of every 67,000 people experience this condition, and it is more common in those of East Asian descent. Those who are Chinese and Japanese are at the highest risk. 

What are the symptoms of Bietti’s crystalline dystrophy?

Vision loss is typically noticeable in the teens or early twenties. They will first lose their visual acuity and experience night blindness. This is followed by visual field loss and issues with seeing colors. Legal blindness is often reached by the 40’s or 50’s. 

Affected individuals are not all affected the same; they lose their vision at their own rates. Sometimes the two eyes lose vision at different rates.  

What causes Bietti’s crystalline dystrophy?

A mutated CYP4V2 gene is responsible for this condition, and it is inherited in an autosomal recessive pattern. It is responsible for the instructions for a family of enzymes that are needed to break down lipids into energy. Medical professionals are unaware of these enzymes’ specific role in this process and how they lead to Bietti’s crystalline dystrophy. 

How is Bietti’s crystalline dystrophy diagnosed?

This condition is often misdiagnosed, as it mimics many other disorders that impact the retina. An eye exam is conducted, followed by genetic testing to confirm a diagnosis. 

What are the treatments for Bietti’s crystalline dystrophy?

There is currently no cure or treatment specific to this condition. Medical professionals hope that further research into the gene that causes it will allow for progress in treatments.

Where can I find out more about Bietti’s crystalline dystrophy?

• • • NIH
    • National Eye Institute
    • Lighthouse Guild