Infantile cerebellar retinal degeneration

What causes infantile cerebellar retinal degeneration (ICRD)

ICRD is a genetic disorder caused by mutations in the ACO2 gene. This gene codes for a protein found in the mitochondria that is involved in the citric acid cycle, which is the process in which energy is created from the breakdown of the foods we eat.

Last updated on 05-01-20

How is infantile cerebellar retinal degeneration (ICRD) inherited?

ICRD is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this condition.

People with ICRD inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier

Last updated on 05-01-20

Where To Start

The University of Arizona Health Sciences Hereditary Ocular Disease Database

The University of Arizona Health Sciences Hereditary Ocular Disease Database offers information on Infantile cerebellar retinal degeneration

Last updated on 04-27-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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