Iridogoniodysgenesis, dominant type: Difference between revisions
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*[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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Revision as of 06:38, 14 September 2008
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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). [1]
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). [2]
Treatment: of glaucoma in iridogoniodysgenesis is primarily surgical.
It is listed as a "rare disease" by the Office of Rare Diseases (ORD)[1]. This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population.