sclerocornea การใช้

Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia, sclerocornea, microphthalmia, and optic disc coloboma.
-Tnmd mRNA was detected in eyes, more specifically in the sclerocornea, tendon of the extraocular muscle and the retinal ganglion cell layer, lens fibre cells, inner nuclear layer cells and pigment epithelium.
Mutations in the MCCS gene cause Microphthalmia with linear skin defects ( MLS ) syndrome, also known as MIDAS syndrome, microphthalmia, syndromic 7 ( MCOPS7 ), or microphthalmia, dermal aplasia, and sclerocornea.
The aniridic probands showed typical features of sclerocornea with nystagmus in proband 28 1 ( A ); Foveal hypoplasia in proband 27 1 ( B ); Ptosis, microcornea with dislocated cataractous lens in proband 10 1 ( C ); Ectopia lentis in proband 16 1 ( D ).