Iris hypoplasia with glaucoma explained
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| Synonyms: | Iris hypoplasia and glaucoma, IHG |
| Symptoms: | ocular anomalies |
| Onset: | Conception |
| Duration: | Lifelong |
| Risk: | --> |
| Prevention: | None |
| Management: | --> |
| 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: | - |
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]
Notes and References
- Web site: OMIM Entry - 308500 - IRIS HYPOPLASIA WITH GLAUCOMA; IHG . 2022-06-13 . omim.org.
- 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 . 10.1016/S0002-9297(07)62943-7 . 0002-9297 . 1288555 . 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 . en . 1 . 1 . 14005 . 10.1038/hgv.2014.5 . 27081499 . 4785520 . 2054-345X. free .
