Eyes

• chalazion
  11 March 2004

  meibomian gland lipogranuloma

• microphtalmia
  16 December 2003

  microphtalmos

• anophtalmia
  16 December 2003

  Etiology
  germ-line mutations in RAX gene (#14662654#) SOX2 gene (bilateral anophtalmia)

• congenital eye defects
  25 November 2003

  References
  Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet. 2003 Nov;4(11):876-88. PMID: #14634635#

• retinal dystrophies
  25 November 2003

  Exemples
  Doyne honeycomb retinal dystrophy (malattia leventinese) (MIM.126600)
  References
  Gregory-Evans K, Bhattacharya SS. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 1998 Mar;14(3):103-8. PMID: #9540407#
  Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME. Unfolding retinal dystrophies: a role for molecular chaperones? Trends Mol Med. 2001 Sep;7(9):414-21. PMID: (...)

• lens
  25 November 2003

  More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells.
  As occurs in mammalian red blood cells, lens fiber cell differentiation includes the loss of all membranous cytoplasmic organelles.
  Unlike red blood cells, however, the lens fiber cell is not destroyed after a limited life span but survives for the life of the organism. The extreme changes in cellular architecture that occur during differentiation require extensive remodeling of the (...)

• ocular development
  22 November 2003

  eye development

• glaucoma
  20 November 2003

  Glaucoma is a group of diseases of the optic nerve involving loss of retinal ganglion cells in a characteristic pattern of optic neuropathy.
  Although raised intraocular pressure is a significant risk factor for developing glaucoma, there is no set threshold for intraocular pressure that causes glaucoma. One person may develop nerve damage at a relatively low pressure, while another person may have high eye pressure for years and yet never develop damage.
  Untreated glaucoma leads to (...)

• achromatopsia
  17 November 2003

  Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination.
  Pathology
  3 genes involved
  protein-truncation mutations in the GNAT2 gene (1p13).
  GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s) (...)

• retinal development
  29 October 2003

  retinogenesis, retinal differentiation

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