The effects a coloboma has on the vision can be mild or more severe depending on the size and location of the gap.
12.
According to recent studies involving zebrafish embryos, there is also support in that the FADD gene contributed to ocular coloboma symptoms as well.
13.
Mutations in the RBP4 gene have recently been linked to a form of autosomal dominant microphthalmia, anophthalmia, and coloboma ( MAC ) disease.
14.
Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia, sclerocornea, microphthalmia, and optic disc coloboma.
15.
He is also credited for providing the first description involving repair of palpebral coloboma, an eyelid defect he referred to as " paupieres accurcies ".
16.
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.
17.
"' Yim Ebbin syndrome "'is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma.
18.
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.
19.
Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia ( decreased vision in bright light ), myopia, strabismus, iris / retinal coloboma.
20.
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.
