microphthalmia—isolated—with coloboma—5

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microphthalmia—isolated—with coloboma—52016-11-27T05:29:16+00:00

microphthalmia—isolated—with coloboma—5 

GENETICS, OPHTHALMOLOGY 

Definition An autosomal dominant disorder (OMIM:611638) of eye formation, with ocular changes ranging from unilateral microphthalmia and coloboma to complete bilateral absence of ocular tissue.

Defects seen Opacities of cornea and lens, scarring of retina and choroid; other defects may be seen.

Comment Colobomas are malformations caused by abnormal morphogenesis of the optic cup and stalk, and fusion of the fetal fissure (optic fissure).

Molecular pathology Defects in SHH, which encodes Sonic Hedgehog, a protein central to early embryonic patterning for the anterior-posterior limb axis, the ventral somites and ventral neural tube, cause microphthalmia, isolated, with coloboma 5.

Reference http://www.omim.org/entry/611638 

http://www.uniprot.org/uniprot/Q15465

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