What Your Test Results Mean:

Carriers typically show no symptoms of Costeff optic atrophy syndrome; however, carriers are at an increased risk of having a child with Costeff optic atrophy syndrome. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

Costeff optic atrophy syndrome is an inherited condition that affects visual acuity and muscle control. Children with this disease experience rapid optic atrophy starting in infancy resulting in poor vision. Affected individuals also develop muscle weakness and spasticity, leading many to require a wheelchair. Some patients also have mild cognitive problems. While the disease progresses quickly during childhood, it tends to stabilize over time and individuals survive well into adulthood.

How the Genetics Works:

Costeff optic atrophy syndrome is an autosomal recessive disorder caused by pathogenic variants in the OPA3 gene. In general, individuals have two copies of the OPA3 gene. Carriers of Costeff optic atrophy syndrome have a single variant in one copy of the OPA3 gene while individuals with Costeff optic atrophy syndrome have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.