Iridogoniodysgenesis type 1

From WikiMD's WELLNESSPEDIA

Alternate names[edit]

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

Definition[edit]

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]

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

Inheritance[edit]

Autosomal dominant pattern, a 50/50 chance.

It is inherited in an autosomal dominant manner.

Signs and symptoms[edit]

  • 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]

Treatment[edit]

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


Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors

NIH genetic and rare disease info[edit]

Iridogoniodysgenesis type 1 is a rare disease.


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