BEST1-related vitreoretinochoroidopathy

BEST1-related vitreoretinochoroidopathy is a rare eye condition affecting the vitreous, retina, and choroid. It is caused by a change in one copy of the BEST1 gene. This condition is also known as ADVRIC. The term vitreoretinochoroidopathy reflects that it affects multiple layers of the eye that are important for vision. People with this condition have the variant in the BEST1 gene that leads to changes in the eye. While detailed information is limited, understanding that it is linked to a specific genetic change can help guide further research and care planning.

Information about symptoms is currently limited for this condition.

The condition is caused by a heterozygous variant in the BEST1 gene. This means that a change in one of the two copies of the gene is enough to cause the disease. The genetic change affects the normal function of the eye, leading to the features of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.