资讯

Cone dystrophy. You get cone dystrophy when cells called cones in your retina start to lose their function. Cone cells are in your macula, and help you see color and handle bright light.
Rods help you see in low light. Cones give you high-resolution central vision and color vision. There are many types of inherited retinal dystrophy (IRD). Here are the most common: Retinitis ...
Opus Genetics, Inc. (Nasdaq: IRD), a clinical-stage ophthalmic biopharmaceutical company developing gene therapies for the ...
The researchers identified four homozygous variants of the gene UBAP1L that were linked to various retinal dystrophies, including maculopathy, cone dystrophy and cone-rod dystrophy, which ...
or a disorder that also affects the rod cells that enable night vision (cone-rod dystrophy). The patients had symptoms of retinal dystrophy starting in early adulthood, progressing to severe ...
Because EYS and GRK7, a protein involved in the termination and recovery of the photoresponse, are both OS proteins predominantly expressed in cone cells ... for retinal dystrophy caused by ...
Odylia Therapeutics Inc. has announced it is working under a codevelopment partnership with the NPHP1 Family Foundation to create an AAV-based gene replacement therapy for retinal dystrophy caused by ...
Benefits of dual whole exome sequencing and gene-specific deep sequencing approach: • Novel variant analysis - Recently discovered gene variants, usually not covered by gene panel testing (100 ...