Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.

Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in cells and tissues throughout the body. The OPA1 protein is found within mitochondria, which are the energy-producing centers of cells. The protein plays a key role in the organization of the shape and structure of the mitochondria and in controlled cell death (apoptosis). The OPA1 protein is also involved in a process called oxidative phosphorylation, from which cells derive much of their energy. Additionally, the protein plays a role in the maintenance of the DNA within mitochondria, called mitochondrial DNA (mtDNA).

Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Published Date: August 01, 2017
Published By: National Institutes of Health