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Genetic and Rare Diseases Information Center (GARD)

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Optic atrophy 1

Other Names for this Disease
  • Kjer-type optic atrophy
  • OAK
  • OPA1
  • Optic atrophy, juvenile
  • Optic atrophy, Kjer type
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Your Question

What is the life expectancy for individuals with optic atrophy 1?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is optic atrophy 1?

Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings.[1] It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family.[2] Treatment focuses on individual symptoms when possible.[1]
Last updated: 12/22/2010

What is the life expectancy for individuals with optic atrophy 1?

A thorough search of available literature provided very limited information about how optic atrophy 1 may affect life expectancy.

A recent study discussed how extra-ocular neurological complications may be more common than previously thought in individuals with an OPA1 gene mutation and may affect up to 20% of individuals. The authors of the study described new clinical features including spastic paraplegia (stiffness of the legs) and a multiple sclerosis-like illness.[3]

Ongoing research and follow-up of individuals with the condition may provide specific information about life expectancy in the future. Vision loss alone is not expected to substantially shorten the life span; however, severe neurological symptoms, when present, theoretically may contribute to a shortened life span in some individuals.
Last updated: 12/22/2010