Eyes

• choroidea
  13 May 2005

  choroid

• primary open-angle glaucoma
  12 May 2005

  POAG

• retinoblastoma
  10 May 2005

  Images
  Macroscopy
  https://twitter.com/smallbluecells/status/866678137639374850
  https://twitter.com/JMGardnerMD/status/875352731728449536
  Microscopy
  https://twitter.com/smallbluecells/status/866714633192787972
  https://twitter.com/JMGardnerMD/status/875352731728449536
  CGH (#17099872#, #15834944#)
  gains
  1q32.1 gain (62%) (positively associated with 6p gain and maybe MYCN gain) (KIF14) (#17099872#, #15834944#)
  2p gain (#15834944#)
  6p22 gain (43%) (DEK or E2F3) (...)

• retinal coloboma
  9 May 2005

  Associations
  papillorenal syndrome (PAX2 mutations)

• Fovea
  9 May 2005

  Adj. foveal

• Retina
  9 May 2005

  Adj. retinal

• rhodopsin-associated retinitis pigmentosa
  2 May 2005

  References
  Mendes HF, van der Spuy J, Chapple JP, Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr;11(4):177-85. PMID: #15823756#
  Kennan A, Aherne A, Humphries P. Light in retinitis pigmentosa. Trends Genet. 2005 Feb;21(2):103-10. PMID: #15661356#
  Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May (...)

• anterior corneal epithelium
  16 April 2005

  The intermediate filament cytoskeleton of the anterior corneal epithelium consists largely of keratin-3 (KRT3) and keratin-12 (KRT12).

• Meesmann corneal dystrophy
  16 April 2005

  Synopsis
  microcysts
  Etiology
  mutations in the genes encoding the cornea-specific keratin-3 (KRT3) (MIM.148043) and keratin-12 (KRT12) (MIM.601687) The intermediate filament cytoskeleton of the anterior corneal epithelium consists largely of keratins 3 and 12.

• Doyne honeycomb retinal dystrophy
  14 April 2005

  malattia leventinese

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