Iris hypoplasia with glaucoma
{{Infobox medical condition
|name =
|synonyms = Iris hypoplasia and glaucoma, IHG
|image = Depiction of vision for a Glaucoma patient.png
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|specialty = Medical genetics, Ophthalmology
|symptoms = ocular anomalies
|complications =
|onset = Conception
|duration = Lifelong
|types =
|causes = Genetic mutation
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|differential =
|prevention = None
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|prognosis = Medium
|frequency = Rare, although 3 families have been described, there could be more, since iris hypoplasia and accompanying glaucoma can't be as rare as 3 families out of 2 billion
|deaths = -
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Iris hypoplasia with glaucoma, also known as Iris hypoplasia and glaucoma or simply IHG is a very rare genetic disorder which is characterized by a combination of underdevelopment of the iris and glaucoma. It has been described in three families; two from Russia{{Cite web |title=OMIM Entry - 308500 - IRIS HYPOPLASIA WITH GLAUCOMA; IHG |url=https://omim.org/entry/308500#1 |access-date=2022-06-13 |website=omim.org}} and one from London, U.K. It was mapped to a duplication of the q25 region of chromosome 6 through the London family.{{Cite journal |last1=Lehmann |first1=O. J. |last2=Ebenezer |first2=N. D. |last3=Jordan |first3=T. |last4=Fox |first4=M. |last5=Ocaka |first5=L. |last6=Payne |first6=A. |last7=Leroy |first7=B. P. |last8=Clark |first8=B. J. |last9=Hitchings |first9=R. A. |last10=Povey |first10=S. |last11=Khaw |first11=P. T. |date=2000-11-01 |title=Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma |journal=American Journal of Human Genetics |volume=67 |issue=5 |pages=1129–1135 |doi=10.1016/S0002-9297(07)62943-7 |issn=0002-9297 |pmc=1288555 |pmid=11007653}} Tooth agenesis can sometimes be associated with this disorder.{{Cite journal |last1=Kimura |first1=Masashi |last2=Tokita |first2=Yoshihito |last3=Machida |first3=Junichiro |last4=Shibata |first4=Akio |last5=Tatematsu |first5=Tadashi |last6=Tsurusaki |first6=Yoshinori |last7=Miyake |first7=Noriko |last8=Saitsu |first8=Hirotomo |last9=Miyachi |first9=Hitoshi |last10=Shimozato |first10=Kazuo |last11=Matsumoto |first11=Naomichi |date=2014-07-31 |title=A novel PITX2 mutation causing iris hypoplasia |journal=Human Genome Variation |language=en |volume=1 |issue=1 |page=14005 |doi=10.1038/hgv.2014.5 |pmid=27081499 |pmc=4785520 |issn=2054-345X|doi-access=free }}
References
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Category:Genetic diseases and disorders
Category:Rare genetic syndromes
Category:Congenital disorders of eyes
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