Eyes

• corneal stem cell deficiency
  13 May 2005

  Etiology (exemples)
  germline PAX6 mutations

• foveal hypoplasia
  13 May 2005

  Etiology (exemples)
  PAX6 mutations

• iris coloboma
  13 May 2005

  Etiology
  germline mutations in SIX3 CHX10

• corneal keratinocytes
  13 May 2005

  Definition: A particular cell type in the cornea that is defined by the expression of keratins.

• Iris
  13 May 2005

  Definition: The disc-shaped pigmented contractile membrane of the eye that is attached at its margin to the ciliary body and is perforated centrally by the pupil.

• iridogoniodysgenesis
  13 May 2005

  A syndrome that includes glaucoma and dysgenesis of the iris and the gonads.
  Etiology
  PITX2 mutations

• ocular field
  13 May 2005

  eye field

• cornea
  13 May 2005

  WKP
  Definition: The transparent convex portion of the anterior eye.
  The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. The cornea, with the anterior chamber and lens, refracts light, with the cornea accounting for approximately two-thirds of the eye’s total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres.
  Pathology
  corneal (...)

• ocular coloboma
  13 May 2005

  Definition: Incomplete closure of the fissure of the embryonic optic cup, which mainly affects the iris.
  Types:
  iris coloboma
  uveal coloboma
  retinal coloboma
  Etiology (Exemples)
  germline mutations in PAX6 (MIM.607108) SHH (sonic hedgehog) (MIM.600725) MAF GDF6 at 8q21.2-q22.1 (MIM.601147)
  See also
  ocular malformations
  references
  Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. GDF6, a novel locus for a (...)

• ciliary body
  13 May 2005

  Defintion: The part of the eye between the choroid and the iris to which the ciliary muscle is attached.

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