Source:http://linkedlifedata.com/resource/pubmed/id/17651254
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
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| pubmed:dateCreated |
2007-7-26
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| pubmed:abstractText |
Human retinal dystrophies have unparalleled genetic and clinical diversity and are currently linked to more than 185 genetic loci. Genotyping is a crucial exercise, as human gene-specific clinical trials to study photoreceptor rescue are on their way. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution. As treatments are gene-specific and the 'window of opportunity' is time-sensitive; accurate, rapid and cost-effective genetic testing will play an ever-increasing crucial role. The gold standard is sequencing but is fraught with excessive costs, time, manpower issues and finding non-pathogenic variants. Therefore, no centre offers testing of all currently 132 known genes. Several new micro-array technologies have emerged recently, that offer rapid, cost-effective and accurate genotyping. The new disease chips from Asper Ophthalmics (for Stargardt dystrophy, Leber congenital amaurosis [LCA], Usher syndromes and retinitis pigmentosa) offer an excellent first pass opportunity. All known mutations are placed on the chip and in 4 h a patient's DNA is screened. Identification rates (identifying at least one disease-associated mutation) are currently approximately 70% (Stargardt), approximately 60-70% (LCA) and approximately 45% (Usher syndrome subtype 1). This may be combined with genotype-phenotype correlations that suggest the causal gene from the clinical appearance (e.g. preserved para-arteriolar retinal pigment epithelium suggests the involvement of the CRB1 gene in LCA). As approximately 50% of the retinal dystrophy genes still await discovery, these technologies will improve dramatically as additional novel mutations are added. Genetic testing will then become standard practice to complement the ophthalmic evaluation.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/CACNA1F protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/CNGB3 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Calcium Channels, L-Type,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Cyclic Nucleotide-Gated Cation...,
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Guanylate Cyclase,
http://linkedlifedata.com/resource/pubmed/chemical/Ion Channels,
http://linkedlifedata.com/resource/pubmed/chemical/RPE65 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cell Surface,
http://linkedlifedata.com/resource/pubmed/chemical/guanylate cyclase 1
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| pubmed:status |
MEDLINE
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| pubmed:month |
Jul
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| pubmed:issn |
1442-6404
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
35
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
473-85
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:17651254-Blindness,
pubmed-meshheading:17651254-Calcium Channels, L-Type,
pubmed-meshheading:17651254-Carrier Proteins,
pubmed-meshheading:17651254-Child, Preschool,
pubmed-meshheading:17651254-Color Vision Defects,
pubmed-meshheading:17651254-Cyclic Nucleotide-Gated Cation Channels,
pubmed-meshheading:17651254-DNA Mutational Analysis,
pubmed-meshheading:17651254-Eye Proteins,
pubmed-meshheading:17651254-Genetic Testing,
pubmed-meshheading:17651254-Genotype,
pubmed-meshheading:17651254-Guanylate Cyclase,
pubmed-meshheading:17651254-Humans,
pubmed-meshheading:17651254-Infant,
pubmed-meshheading:17651254-Ion Channels,
pubmed-meshheading:17651254-Male,
pubmed-meshheading:17651254-Night Blindness,
pubmed-meshheading:17651254-Pharmacogenetics,
pubmed-meshheading:17651254-Receptors, Cell Surface,
pubmed-meshheading:17651254-Retinal Degeneration
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| pubmed:year |
2007
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| pubmed:articleTitle |
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
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| pubmed:affiliation |
McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada. robert.koenekoop@muhc.mcgill.ca
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| pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
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