| The retinal ciliopathies. | |
MedLine Citation:
|
PMID: 17896309 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
Authors:
|
N A Adams; Ahmed Awadein; Hassanain S Toma |
Related Documents
:
|
17551339 - Congenital ulcerating hemangioma in a baby with kras mutation and cardio-facio-cutaneou... 17318849 - Vitreous phenotype: a key diagnostic sign in stickler syndrome types 1 and 2 complicate... 11896389 - Haploinsufficiency of nsd1 causes sotos syndrome. 19147279 - Chemopreventive efficacy of rapamycin on peutz-jeghers syndrome in a mouse model. 23337549 - Fip1l1-pdgfrα-positive hypereosinophilic syndrome in childhood: a case report and revie... 19339789 - Genetics of hypertensive syndrome. 15682009 - Toward an understanding of dural ectasia: a light microscopy study in a murine model of... 9430549 - A comparative histologic study of the fibrillin microfibrillar system in the lens capsu... 12819469 - Autoimmune lymphoproliferative syndrome. |
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 |
Affiliation:
|
The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. naadams@jhmi.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Cilia*
/
metabolism,
ultrastructure Eye Proteins / genetics Humans Mutation Photoreceptor Cells, Vertebrate* / metabolism, ultrastructure Retinal Diseases* / classification, genetics, metabolism, pathology |
| Chemical | |
Reg. No./Substance:
|
0/Eye Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Estimating quality-adjusted life year losses associated with visual field deficits using methodologi...
Next Document: Rescue of sight by gene therapy - closer than it may appear.