Summarized by Plex Health
Last Updated: 04 May 2022
mutations in mab21l2 result in ocular coloboma, microcornea and cataracts. "mutations in mab21l2 result in ocular coloboma, microcornea and cataracts.", by Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. pgen.1005002.g004: Phenotypic analysis of homozygous embryos carrying mutant mab21l2 alleles encoding p.(Gln48Serfs*5) truncation (mab21l2Q48Sfs*5) and p.(Arg51_Phe52del) in-frame deletion (mab21l2R51_F52del) proteins.A-R. Embryonic phenotypes. Images of wild-type larvae at 96-hpf (A-E) and 120-hpf (F), as well as...

Coloboma is an eye irregularity that takes place before birth. Colobomas are missing items of tissue in frameworks that create the eye. Colobomas influencing the iris, which cause a "keyhole" appearance of the student, usually do not lead to vision loss. Colobomas entailing the retina cause vision loss in specific parts of the visual field. Large retinal colobomas or those impacting the optic nerve can cause low vision, which indicates vision loss that can not be totally corrected with glasses or call lenses. Some people with coloboma also have a problem called microphthalmia. In some affected individuals, the eyeball may seem entirely missing out on; nevertheless, even in these cases some remaining eye tissue is generally present. Such serious microphthalmia needs to be identified from another problem called anophthalmia, in which no eyeball forms in all. Nonetheless, the terms anophthalmia and serious microphthalmia are often used interchangeably. Microphthalmia might or may not result in substantial vision loss. People with coloboma may additionally have other eye irregularities, consisting of clouding of the lens of the eye, increased pressure inside the eye that can harm the optic nerve, vision problems such as nearsightedness, involuntary back-and-forth eye motions, or separation of the retina from the back of the eye. Some people have coloboma as part of a disorder that impacts other body organs and tissues in the body. Colobomas entailing the eyeball needs to be differentiated from voids that occur in the eyelids.

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