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 describe unambiguously the anatomy of humans and other animals. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position pro ...

chamber of the

eye An eye is a sensory organ that allows an organism to perceive visual information. It detects light and converts it into electro-chemical impulses in neurons (neurones). It is part of an organism's visual system. In higher organisms, the ey ...

. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of

neural crest cells The neural crest is a ridge-like structure that is formed transiently between the epidermal ectoderm and neural plate during vertebrate development. Neural crest cells originate from this structure through the epithelial-mesenchymal transition, an ...

. 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 layer anteriorly, and Descemet's membrane posteriorly. At its centre, ...

& endothelium, iris stroma, trabeculum).

Symptoms and signs

Symptoms include iris hypoplasis, goniodysgenesis, and juvenile

glaucoma Glaucoma is a group of eye diseases that can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of ...

. Glaucoma

phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...

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 domain. ...

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 Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

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