Iridogoniodysgenesis type 1
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]
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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