Iridogoniodysgenesis type 1

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Alternate names[edit | edit source]

Iridogoniodysgenesis anomaly, Autosomal dominant; IRID1; IGDA; IGDA syndrome

Definition[edit | edit source]

Iridogoniodysgenesis type 1 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma.

Cause[edit | edit source]

Iridogoniodysgenesis type 1 is caused by changes (mutations) in the FOXC1 gene.

Inheritance[edit | edit source]

Autosomal dominant pattern, a 50/50 chance.

It is inherited in an autosomal dominant manner.

Signs and symptoms[edit | edit source]

  • People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma.
  • The irides of affected people are unusually dark.
  • For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray.
  • The iris also lacks the usual pattern and has a smooth appearance.

Diagnosis[edit | edit source]

Treatment[edit | edit source]

Management is based on the signs and symptoms present in each person and is generally focused on the screening and eventual treatment of glaucoma.


NIH genetic and rare disease info[edit source]

Iridogoniodysgenesis type 1 is a rare disease.


Iridogoniodysgenesis type 1 Resources
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Wikipedia
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