Iridogoniodysgenesis, dominant type
- Iridogoniodysgenesis, dominant type
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). [Dureau P.Iridogoniodysgenesis dominant type. Orphanet Encyclopedia. March 2004 ]
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). [Berg F. Erbliches jugendliches Glaukom. Acta Ophthal. 10:568-587, 1932 ]
Treatment: of glaucoma in iridogoniodysgenesis is primarily surgical.
It is listed as a "rare disease" by the Office of Rare Diseases (ORD) [http://rarediseases.info.nih.gov/] . This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population.
References
External Links
* [http://http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601631 OMIM]
* [http://http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2296&ordinalpos=1&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum Entrez Gene]
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