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).[2]
| Iridogoniodysgenesis, dominant type | |
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| Iridogoniodysgenesis, dominant type is inherited via autosomal dominant manner[1] |
Symptoms and signs
editSymptoms include iris hypoplasis, goniodysgenesis, and juvenile glaucoma. Glaucoma phenotype that maps to 6p25 results from mutations in the forkhead transcription factor gene FOXC1[citation needed]
Cause
editThis is transmitted through an autosomal dominant pattern with complete penetrance and variable expressivity.
Diagnosis
editThis section is empty. You can help by adding to it. (July 2017) |
Treatment
editTreatment of glaucoma in iridogoniodysgenesis is primarily surgical.[citation needed]
It is listed as a "rare disease" by the Office of Rare Diseases (ORD).[3] This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population.
History
editThis was first reported by Berg (1932).[4]
References
edit- ^ "OMIM Entry - # 601631 - ANTERIOR SEGMENT DYSGENESIS 3; ASGD3". omim.org. Retrieved 21 July 2017.
- ^ Dureau P.Iridogoniodysgenesis dominant type. Orphanet Encyclopedia. March 2004
- ^ Iridogoniodysgenesis, dominant type at NIH's Office of Rare Diseases
- ^ Berg, Fredrik (1932-12-01). "Erbliches Jugendliches Glaukom". Acta Ophthalmologica. 10 (4): 568–587. doi:10.1111/j.1755-3768.1932.tb07210.x. ISSN 1755-3768. S2CID 72041411.
External links
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