Mutations in the cone rod homeobox (CRX) transcription factor lead to distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber congenital amaurosis (LCA). Adeno-Associated virus (AAV) vector-mediated delivery of a CRX cDNA under the control of a CRX promoter region partially restored photoreceptor phenotype and expression of phototransduction genes in an in vitro model of CRX-LCA.
X-linked retinoschisis (XLRS) is an inherited, monogenetic ocular disease caused by mutations in the retinoschisin (RS1) gene, resulting in the development of cystic cavities throughout the retina and leading to juvenile macular degeneration. Approximately 1:15,000 males in the US are affected, classifying the condition as an orphan indication.
Researchers at the National Eye Institute (NEI) have discovered an invention describing a composition and method(s) of using such composition for preserving viability of cells, tissues, or organs at a low temperature (around 4ºC). Current cold storage solutions or methods for cells, tissues, and organs are suboptimal due to irreversible damage to cold-sensitive tissue or organ transplants that need a longer term of storage for facilitating clinical practices.
The culture of mouse embryos ex utero and continuous monitoring and imaging of embryos as they develop have applications in drug testing, genetic studies, and basic research on embryonic development. However, the embryo culture systems currently available for post-implantation embryos include rolling bottle culture systems, which do not permit imaging of the developing embryos and do not support the long-term survival and development of embryos ex utero.
Approximately one-third of non-syndromic retinal dystrophies involve a defect in a ciliary protein. Non-syndromic retinal ciliopathies include retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis (LCA). Many CEP290-LCA patients also exhibit auditory and olfactory defects. Induced pluripotent stem cells (iPS) cells were derived from patients with LCA and unaffected relatives.
The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of these iPS cells.
Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. Certain forms of albinism are known to be due to mutations in tyrosine metabolism. In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair. In ocular albinism, only the eyes lack pigment. Patients with albinism experience varying degrees of vision loss associated with foveal h