Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the
irido-corneal angle of the
anterior chamber of the
eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of
neural crest cells
Neural crest cells are a temporary group of cells unique to vertebrates that arise from the embryonic ectoderm germ layer, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, ...
. These cells lead to formation of most of the anterior segment structures of the eye (
corneal stroma
The stroma of the cornea (or substantia propria) is a fibrous, tough, unyielding, perfectly transparent and the thickest layer of the cornea of the eye. It is between Bowman's membrane anteriorly, and Descemet's membrane posteriorly.
At its cent ...
& endothelium,
iris stroma,
trabeculum).
Symptoms and signs
Symptoms include
iris hypoplasis,
goniodysgenesis, and juvenile
glaucoma
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...
. Glaucoma
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological pr ...
that maps to 6p25 results from mutations in the forkhead transcription factor gene
FOXC1
Cause
This is transmitted through an
autosomal dominant pattern with complete penetrance and variable expressivity.
Diagnosis
Treatment
Treatment of
glaucoma
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...
in iridogoniodysgenesis is primarily surgical.
It is listed as a "rare disease" by the Office of Rare Diseases (ORD). This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population.
History
This was first reported by Berg (1932).
References
External links
Entrez Gene
{{Transcription factor/coregulator deficiencies
Rare diseases
Eye diseases
Congenital disorders of eyes