Iridogoniodysgenesis, dominant type
Encyclopedia
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. These cells lead to formation of most of the anterior segment structures of the eye (corneal stroma & endothelium, iris stroma
, trabeculum).
Symptoms: iris hypoplasis, goniodysgenesis, and juvenile glaucoma
. Glaucoma phenotype
that maps to 6p25 results from mutations in the forkhead transcription factor gene FOXC1
Transmission: autosomal dominant pattern with complete penetrance and variable expressivity.
First reported by Berg (1932).
Treatment: of glaucoma 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.
Human eye
The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells. These cells lead to formation of most of the anterior segment structures of the eye (corneal stroma & endothelium, iris stroma
Stroma of iris
The stroma of the iris consists of fibers and cells.The former are made up of delicate bundles of fibrous tissue; a few fibers at the circumference of the iris have a circular direction; but the majority radiate toward the pupil, forming by their interlacement delicate meshes in which the vessels...
, trabeculum).
Symptoms: iris hypoplasis, goniodysgenesis, and juvenile glaucoma
Glaucoma
Glaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
. Glaucoma phenotype
Phenotype
A phenotype is an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior...
that maps to 6p25 results from mutations in the forkhead transcription factor gene FOXC1
Forkhead box C1
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the FOXC1 gene.- Function :This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head domain...
Transmission: autosomal dominant pattern with complete penetrance and variable expressivity.
First reported by Berg (1932).
Treatment: of glaucoma 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.