coloboma उदाहरण वाक्य
उदाहरण वाक्य
- The effects a coloboma has on the vision can be mild or more severe depending on the size and location of the gap.
- According to recent studies involving zebrafish embryos, there is also support in that the FADD gene contributed to ocular coloboma symptoms as well.
- Mutations in the RBP4 gene have recently been linked to a form of autosomal dominant microphthalmia, anophthalmia, and coloboma ( MAC ) disease.
- Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia, sclerocornea, microphthalmia, and optic disc coloboma.
- He is also credited for providing the first description involving repair of palpebral coloboma, an eyelid defect he referred to as " paupieres accurcies ".
- Rarely it may have ocular complications such as hemeralopia, pigmentary chorioretinitis, optic atrophy or retinal / iris coloboma, having a serious effect on the person's vision.
- "' Yim Ebbin syndrome "'is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.
- Although in individuals with signs of ocular coloboma, a microdeletion in the Fas-associated death domain ( FADD ) gene ( 11q13.3 ) was also found to be responsible.
- Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia ( decreased vision in bright light ), myopia, strabismus, iris / retinal coloboma.
- This syndrome is referred as Cat Eye due to the eye appearance of reported affected individuals who have coloboma of the iris; however, this feature is only seen in about half of the cases.