Document Detail

The retinal ciliopathies.
MedLine Citation:
PMID:  17896309     Owner:  NLM     Status:  MEDLINE    
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, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome, McKusick-Kaufman syndrome, and 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, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as ciliopathies may help the ophthalmologist to recognize associations between seemingly unrelated diseases and have a high degree of suspicion that a systemic finding may be present.
N A Adams; Ahmed Awadein; Hassanain S Toma
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  28     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-09-26     Completed Date:  2008-01-02     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  113-25     Citation Subset:  IM    
The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
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MeSH Terms
Cilia* / metabolism,  ultrastructure
Eye Proteins / genetics
Photoreceptor Cells, Vertebrate* / metabolism,  ultrastructure
Retinal Diseases* / classification,  genetics,  metabolism,  pathology
Reg. No./Substance:
0/Eye Proteins

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