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retinal ciliopathies

Sunday 20 April 2008

While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.

Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease.

The concept of "retinal ciliopathies" brings to attention the importance of further molecular analysis of this organelle as well as provides a potential common target for therapies for these disorders.

The retinal ciliopathies include:

- retinitis pigmentosa
- macular degeneration
- cone-dystrophy
- cone-rod dystrophy
- Leber congenital amaurosis
- retinal degenerations associated with ciliopathies

  • Usher syndrome
  • primary ciliary dyskinesia
  • Senior-Loken syndrome
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Laurence-Moon syndrome
  • McKusick-Kaufman syndrome
  • Biemond syndrome.

Mutations for these disorders have been found in retinitis pigmentosa-1 (RP1), retinitis pigmentosa GTPase regulator (RPGR), retinitis pigmentosa GTPase regulator interacting protein (RPGR-IP), as well as the Usher, Bardet-Biedl, and nephronophthisis genes.

Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include:

  • Alstrom syndrome
  • Edwards-Sethi syndrome
  • Ellis-van Creveld syndrome
  • Jeune syndrome
  • Meckel-Gruber syndrome
  • Orofaciodigital Type 9 syndrome
  • Gurrieri syndrome

See also

- ciliopathies


- Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet. 2007 Sep;28(3):113-25. PMID: 17896309

- Koenekoop RK, Cremers FP, den Hollander AI. Leber congenital amaurosis: ciliary proteins on the move. Ophthalmic Genet. 2007 Sep;28(3):111-2. PMID: 17896308