Iris hypoplasia with glaucoma, also known as Iris hypoplasiaandglaucoma or simply IHG is a very rare genetic disorder which is characterized by a combination of an underdeveloped of the iris and glaucoma. It has been described in three families; two from Russia[1] and one from London, U.K. It was mapped to a duplication of the q25 region of chromosome 6 through the London family.[2] Tooth agenesis can sometimes be associated with this disorder.[3]
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
^Lehmann, O. J.; Ebenezer, N. D.; Jordan, T.; Fox, M.; Ocaka, L.; Payne, A.; Leroy, B. P.; Clark, B. J.; Hitchings, R. A.; Povey, S.; Khaw, P. T. (2000-11-01). "Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma". American Journal of Human Genetics. 67 (5): 1129–1135. doi:10.1016/S0002-9297(07)62943-7. ISSN 0002-9297. PMC1288555. PMID 11007653.
iris, hypoplasia, with, glaucoma, also, known, iris, hypoplasia, glaucoma, simply, very, rare, genetic, disorder, which, characterized, combination, underdeveloped, iris, glaucoma, been, described, three, families, from, russia, from, london, mapped, duplicati. 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 an underdeveloped of the iris and glaucoma It has been described in three families two from Russia 1 and one from London U K It was mapped to a duplication of the q25 region of chromosome 6 through the London family 2 Tooth agenesis can sometimes be associated with this disorder 3 Iris hypoplasia with glaucomaOther namesIris hypoplasia and glaucoma IHGSpecialtyMedical genetics OphthalmologySymptomsocular anomaliesUsual onsetConceptionDurationLifelongCausesGenetic mutationPreventionNonePrognosisMediumFrequencyRare 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 billionDeaths References edit OMIM Entry 308500 IRIS HYPOPLASIA WITH GLAUCOMA IHG omim org Retrieved 2022 06 13 Lehmann O J Ebenezer N D Jordan T Fox M Ocaka L Payne A Leroy B P Clark B J Hitchings R A Povey S Khaw P T 2000 11 01 Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma American Journal of Human Genetics 67 5 1129 1135 doi 10 1016 S0002 9297 07 62943 7 ISSN 0002 9297 PMC 1288555 PMID 11007653 Kimura Masashi Tokita Yoshihito Machida Junichiro Shibata Akio Tatematsu Tadashi Tsurusaki Yoshinori Miyake Noriko Saitsu Hirotomo Miyachi Hitoshi Shimozato Kazuo Matsumoto Naomichi 2014 07 31 A novel PITX2 mutation causing iris hypoplasia Human Genome Variation 1 1 14005 doi 10 1038 hgv 2014 5 ISSN 2054 345X PMC 4785520 PMID 27081499 nbsp This ophthalmology article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Iris hypoplasia with glaucoma amp oldid 1136804746, wikipedia, wiki, book, books, library,
