Eyes

• eye colour
  19 August 2004

  References
  Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004 Aug;20(8):327-32. PMID: #15262401#

• retinal degeneration
  4 May 2004

  Physiopathology
  Alternative splicing and retinal degeneration. (#23647439#)
  Alternative splicing is highly regulated in tissue-specific and development-specific patterns, and it has been estimated that 15% of disease-causing point mutations affect pre-mRNA splicing.
  Cis-acting splice site and trans-acting splicing factor mutations can affect pre-mRNA splicing and contribute to retinal degeneration.
  Numerous splice site mutations have been identified in retinitis pigmentosa (RP) and (...)

• photoreceptor degeneration
  22 April 2004

  References
  Li T. Disease model: photoreceptor degenerations. Trends Mol Med. 2001 Mar;7(3):133-5. PMID: #11286785#

• photoreceptors
  22 April 2004

  The retina consists of three main cellular layers (right): a rod cells (R) and cone cells (C) layer or photoreceptor layer, a layer of interneurons (bipolar interneurons, horizontal interneurons, amacrine cells) and the ganglion cell layer, whose axons form the optic nerve, connecting retina and brain.
  The photoreceptors are oriented in the same plane as incoming light, which funnels through the inner to the OS.
  The outer segment contains a dense array of light-sensitive, hollow discs, (...)

• posterior embryotoxon
  12 March 2004
• 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: (...)

0 | ... | 40 | 50 | 60 | 70 | 80 | 90 | 100 | 110 | 120 | 130