Reagents and methods for modulating cone photoreceptor activity
The present invention provides reagents and methods for modulating cone photoreceptor activity, and devices for assessment of cone photoreceptor activity.
1. A method for treating blue cone monochromacy in a primate, comprising administering to the eye of a primate suffering from blue cone monochromacy a recombinant adeno-associated virus (AAV) gene delivery vector comprising
(a) a promoter region, wherein the promoter region comprises an M opsin promoter sequence comprising the nucleic acid sequence of SEQ ID NO:2; and
(b) a gene encoding a therapeutic protein comprising the amino acid sequence of SEQ ID NO: 11;
wherein in vivo expression of the therapeutic protein in cone cells of the primate serves to restore visual capacity in the primate.
2. The method of claim 1 , wherein the visual capacity is selected from the group consisting of: a reduction or slowing of vision loss; improved visual acuity; and a decrease in abnormal sensitivity to bright lights.
3. The method of claim 2 , wherein the primate's response to the treatment is monitored.
4. The method of claim 1 , wherein the gene delivery vector further comprises an enhancer element upstream of the promoter, wherein the enhancer element comprises the nucleic acid sequence of SEQ ID NO: 51, and wherein the gene is operatively linked to the enhancer element.
5. The method of claim 1 , wherein the gene delivery vector further comprises an intron comprising a splice donor/acceptor region, wherein the intron is located downstream of the promoter region and is located upstream of the gene.