What Is Costeff Optic Atrophy Syndrome?

Costeff optic atrophy syndrome (3-methylglutaconic aciduria type 3 (3-MGCA 3), caused by mutations in the OPA3 gene, is a condition that causes individuals to experience both visual problems and involuntary spastic physical movements. These symptoms tend to worsen through childhood.

A hallmark of this condition is optic atrophy, a progressive loss of visual acuity beginning in the first few years of life. In some individuals, the eyes also show an involuntary horizontal back-and-forth movement.

The other defining symptom of this condition is chorea, a movement disorder that causes involuntary, unpredictable body movements. The onset of chorea generally begins before the age of 10. Most individuals will develop weakness and spasticity in the leg muscles along with a general lack of control of the body muscles and may have trouble maintaining their posture. Many, though not all, will need to use a wheelchair from an early age.

Some individuals with the condition may also develop mild cognitive problems between the ages of 10 and 20.

The severity of symptoms can vary from person to person, even among those in the same family.

How Common Is Costeff Optic Atrophy Syndrome?

This disease is most common in Iraqi Jews, in whom 1 in 10,000 newborns are affected by the disease. Only a few cases of the disease have been seen outside the Iraqi Jewish population.

How Is Costeff Optic Atrophy Syndrome Treated?

There is no cure for this condition. Treatments can only address symptoms as they arise and providers can attempt to maximize the patient's vision and address the movement problems. In many cases, a wheelchair will be necessary. Medical care is generally coordinated by a multidisciplinary team that includes a neurologist, an orthopedic surgeon, an ophthalmologist, a geneticist, and a physical therapist.

What Is the Prognosis for a Person with Costeff Optic Atrophy Syndrome?

While some individuals with this condition have been known to live into their thirties; life expectancy beyond that is unknown.

Other names for
Costeff optic atrophy syndrome

  • 3-MGCA 3
  • 3-methylglutaconic aciduria type 3


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