Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the

anterior Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position prov ...

chamber of the

eye Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process visual detail, as well as enabling several photo response functions that are independent of vision. Eyes detect light and conv ...

. 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, per ...

. These cells lead to formation of most of the anterior segment structures of the eye ( corneal stroma & endothelium,

iris stroma The stroma of the iris is a fibrovascular layer of tissue. It is the upper layer of two in the iris. Structure The stroma is a delicate interlacement of fibres. Some circle the circumference of the iris and the majority radiate toward the pupil ...

, trabeculum).

Symptoms and signs

Symptoms include

iris hypoplasis Iris most often refers to: * Iris (anatomy), part of the eye *Iris (mythology), a Greek goddess * ''Iris'' (plant), a genus of flowering plants * Iris (color), an ambiguous color term Iris or IRIS may also refer to: Arts and media Fictional en ...

, 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 re ...

. 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 prop ...

that maps to 6p25 results from mutations in the forkhead transcription factor gene

FOXC1 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 dom ...

Cause

This is transmitted through an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

pattern with complete penetrance and variable expressivity.

Diagnosis

Treatment

Treatment of

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