FLVCR1-related retinopathy with or without ataxia

FLVCR1-related retinopathy with or without ataxia is a disorder that primarily affects vision and coordination. Most patients experience retinopathy, an eye condition that affects the retina, which is important for clear vision. In addition to vision problems, many individuals also present with ataxia, a condition that leads to difficulties with balance and coordination. This overview is based on the understanding that the condition is associated with genetic changes in the FLVCR1 gene. The disease is caused by biallelic variants in the FLVCR1 gene, meaning that changes in both copies of the gene are usually needed for the condition to develop. The disorder may be associated with a range of symptoms, and while the core features are retinopathy and ataxia, the severity and specific presentation can vary among individuals. This summary provides a basic explanation of the condition using the available information, though more details may be needed for a fuller understanding.

People with this condition most often have vision problems due to retinopathy. They may also experience difficulties with balance and coordination (ataxia). Other symptoms are not clearly detailed in the available source.

This condition is caused by biallelic variants in the FLVCR1 gene. This means that changes or mutations in both copies of the gene are responsible for the development of the disorder. The genetic alteration affects how the body functions in the retina and coordination systems.

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.