Preising, Markus N. and Heegaard, Steffen (2004) Recent advances in early-onset severe retinal degeneration: More than just basic research? TRENDS IN MOLECULAR MEDICINE, 10 (2). pp. 51-54. ISSN 1471-4914
Full text not available from this repository. (Request a copy)Abstract
Successful treatment of early-onset severe retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-of-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LEBER CONGENITAL AMAUROSIS; NULL MUTATION DOG; EXUDATIVE VASCULOPATHY; RETINITIS-PIGMENTOSA; GENE-THERAPY; DYSTROPHY; CRB1; AIPL1; LOCALIZATION; BLINDNESS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Aug 2021 10:54 |
| Last Modified: | 02 Aug 2021 10:54 |
| URI: | https://pred.uni-regensburg.de/id/eprint/38060 |
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