Year: 2007
Type: conference-abstract
Abstract: Molecular genetic advances have resulted in the identification of new genes for retinal dystrophies, and knowledge of the functions of these genes in the retina.The challenge of genetic screening and its translation to clinical settings lies in the high degree of genetic heterogeneity with about 40 loci known for retinitis pigmentosa alone.This degree of heterogeneity makes it expensive and time-consuming to carry out genetic testing.An accurate classification of patients on the basis of phenotypes can be used to guide and prioritize screening so that genes that are more likely to be involved for a given phenotype can be screened preferentially.Newer high throughput methods based on microarray have enabled screening of several genes at once and if cost-effective, may be a rapid alternative to conventional methods.Genetic testing of patients not only helps in understanding the basis of disease, but also generates data that can be used to select and recruit subsets of patients who may be suitable for specific therapies.Therapeutic approaches that circumvent the genetic heterogeneity of retinitis pigmentosa and related disorders are being developed that rely on regeneration or preservation of photoreceptors based on supplements of vitamins, antioxidants, growth factors, etc.In addition, genebased therapies such as that of the RPE65 gene in LCA have shown promise and are being tested in clinical trials.
Source: Documenta Ophthalmologica
Authors: Fisher, A.C., Simpson, D.M., Hagan, R.P., Brown, M.C.
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,090
OpenAlex ID: W599965981