Costeff optic atrophy syndrome (3-methylglutaconic aciduria type 3 (3-MGCA 3)) is a condition that causes individuals to experience both visual problems and involuntary spastic physical movements.
Visual impairment and involuntary spastic movements worsen during childhood. It is characterized by progressive optic atrophy, leading to loss of visual acuity in early childhood, often accompanied by involuntary horizontal eye movements. Another key symptom is chorea, causing unpredictable body movements, weakness, and spasticity in leg muscles, leading to difficulties in maintaining posture and often requiring early wheelchair use. Some individuals may also experience mild cognitive issues between ages 10 and 20. The severity of symptoms varies among affected individuals, even within the same family. There is no cure for this condition and treatment is supportive in nature.
Costeff optic atrophy syndrome is caused by pathogenic (disease-causing) variants in the OPA3 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic/Iraqi Jewish descent have a 1 in 10 chance to be a carrier.
Other names for this condition are 3-methylglutaconic aciduria type 3, autosomal recessive OPA3, autosomal recessive optic atrophy 3, infantile optic atrophy with chorea and spastic paraplegia, Iraqi Jewish optic atrophy plus, and optic atrophy plus syndrome.