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Personalized ophthalmology.

Porter LF, Black GC - Clin. Genet. (2014)

Bottom Line: It also promises to alter prediction, diagnosis and management of the complex disease age-related macular degeneration.Two important areas of focus are required for adoption of personalized approaches: disease stratification and individualization.Indeed, whilst many difficulties remain, personalized ophthalmology truly has the potential to revolutionize the specialty.

View Article: PubMed Central - PubMed

Affiliation: Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Royal Eye Hospital, Department of Ophthalmology, Manchester, UK.

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Genetic and phenotypic heterogeneity in inherited retinal diseases (IRD): an example of disease stratification. Molecular diagnosis alters disease management.
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fig03: Genetic and phenotypic heterogeneity in inherited retinal diseases (IRD): an example of disease stratification. Molecular diagnosis alters disease management.

Mentions: IRDs are a genetically and phenotypically heterogeneous group of conditions characterized by rod and cone photoreceptor degeneration (S24). Patients with IRD pose a compelling case for personalized ophthalmology and show the need for widespread genetic testing (9, S25–S26), particularly because of the advent of gene-based clinical trials 7. The nature of phenotypic and genetic heterogeneity amongst IRD is shown in Figs 3 and 4. Because conventional sequencing strategies are impractical in such contexts, NGS-based protocols are required to identify disease-causing mutations. In the clinical setting this is being achieved using custom-based target enrichment panels or whole exome sequencing approaches with a targeted bioinformatics analysis focusing upon genes causing IRD (5, S18). O'Sullivan et al. for example analyzed 105 genes in 50 patients with IRD, successfully identifying a disease-causing mutations in 50–55% of patients 5.


Personalized ophthalmology.

Porter LF, Black GC - Clin. Genet. (2014)

Genetic and phenotypic heterogeneity in inherited retinal diseases (IRD): an example of disease stratification. Molecular diagnosis alters disease management.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4232096&req=5

fig03: Genetic and phenotypic heterogeneity in inherited retinal diseases (IRD): an example of disease stratification. Molecular diagnosis alters disease management.
Mentions: IRDs are a genetically and phenotypically heterogeneous group of conditions characterized by rod and cone photoreceptor degeneration (S24). Patients with IRD pose a compelling case for personalized ophthalmology and show the need for widespread genetic testing (9, S25–S26), particularly because of the advent of gene-based clinical trials 7. The nature of phenotypic and genetic heterogeneity amongst IRD is shown in Figs 3 and 4. Because conventional sequencing strategies are impractical in such contexts, NGS-based protocols are required to identify disease-causing mutations. In the clinical setting this is being achieved using custom-based target enrichment panels or whole exome sequencing approaches with a targeted bioinformatics analysis focusing upon genes causing IRD (5, S18). O'Sullivan et al. for example analyzed 105 genes in 50 patients with IRD, successfully identifying a disease-causing mutations in 50–55% of patients 5.

Bottom Line: It also promises to alter prediction, diagnosis and management of the complex disease age-related macular degeneration.Two important areas of focus are required for adoption of personalized approaches: disease stratification and individualization.Indeed, whilst many difficulties remain, personalized ophthalmology truly has the potential to revolutionize the specialty.

View Article: PubMed Central - PubMed

Affiliation: Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Royal Eye Hospital, Department of Ophthalmology, Manchester, UK.

Show MeSH
Related in: MedlinePlus