Abstract: A nucleic acid trans-splicing molecule is provided that can replace an exon in a targeted mammalian ocular gene carrying a defect or mutation causing an ocular disease with an exon having the naturally-occurring sequence without the defect or mutation. A method of treating an ocular disease, e.g., Stargardt's Disease, caused by a defect or mutation in a target gene, e.g., ABCA4 comprising: administering to the ocular cells of a subject having an ocular disease a composition comprising a recombinant AAV comprising a nucleic acid trans-splicing molecule as described above.

Abstract: This invention provides methods for transducing a ciliated cell with a recombinant serotype 2 adeno-associated virus (AAV) vector. Additionally, the invention provides methods of treating diseases associated with a mutated gene by transducing a ciliated cell with a recombinant serotype 2 AAV vector containing a corrective transgene.

Abstract: Codon optimized nucleic acid sequences for the long form and short form of RdCVF are provided, as well as recombinant viral vectors, such as AAV, expression cassettes, proviral plasmids or other plasmids containing the codon optimized sequences. Recombinant vectors are provided that express the codon optimized RdCVFL and RdCVF individually, or express two copies of a codon optimized RdCVF or RdCVFL nucleic acid sequence, or both RdCVFL and RdCVF in a single vector or virus. Compositions containing these codon optimized sequences are useful in methods for treating, retarding or halting certain blinding diseases resulting from the absence or inappropriate expression of RdCVF and RdCVFL.

Abstract: Methods, systems, and computer readable media for testing visual function using virtual mobility tests are disclosed. One system includes a processor and a memory. The system is configured for configuring a virtual mobility test for testing visual function of a user; generating the virtual mobility test; and analyzing a user's performance during the virtual mobility test for determining the visual function of the user based on user interaction with objects in the virtual mobility test and using data from body movement detection sensors.

Abstract: Codon optimized nucleic acid sequences for the long form and short form of RdCVF are provided, as well as recombinant viral vectors, such as AAV, expression cassettes, proviral plasmids or other plasmids containing the codon optimized sequences. Recombinant vectors are provided that express the codon optimized RdCVFL and RdCVF individually, or express two copies of a codon optimized RdCVF or RdCVFL nucleic acid sequence, or both RdCVFL and RdCVF in a single vector or virus. Compositions containing these codon optimized sequences are useful in methods for treating, retarding or halting certain blinding diseases resulting from the absence or inappropriate expression of RdCVF and RdCVFL.

Abstract: This invention provides methods for transducing a ciliated cell with a recombinant serotype 2 adeno-associated virus (AAV) vector. Additionally, the invention provides methods of treating diseases associated with a mutated gene by transducing a ciliated cell with a recombinant serotype 2 AAV vector containing a corrective transgene.

Abstract: Compositions and methods are provided for treating ocular disorders in a subject are provided. In one aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding CNGA3. In another aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding CNGB3. In another aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding REP-1. In desired embodiments, the subject is human, cat, dog, sheep, or non-human primate.

Abstract: The present invention relates to the synergistic combination of the short and long Rod-Derived Cone Viability Factors and to methods for treating retinal degenerative diseases.

Abstract: Compositions and methods are provided for treating ocular neuropathy in a subject. In one aspect, a recombinant adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding NRF2. In another aspect, a recombinant adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding SIRT1. In desired embodiments, the subject is human, cat, dog, sheep, or non-human primate.

Abstract: Methods and compositions are provided for treatment of peroxisomal biogenesis disorders (PBDs). More particularly, recombinant adeno-associated viruses (rAAV) provided in the form of compositions are used to deliver a nucleic acid encoding human PEX1 to host cells. The rAAVs comprise a AAV capsid, and packaged therein a vector genome comprising an AAV 5? inverted terminal repeat (ITR) sequence; a promoter; a coding sequence encoding a human PEX1; and an AAV 3? ITR.

Abstract: Compositions and methods are provided for treating ocular disorders in a subject are provided. In one aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding CNGA3. In another aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding CNGB3. In another aspect, an adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding REP-1. In desired embodiments, the subject is human, cat, dog, sheep, or non-human primate.

Abstract: Compositions and methods are provided for treating Leber congenital amaurosis (LCA) in a subject. In one aspect, a recombinant adeno-associated viral vector is provided which includes a nucleic acid molecule comprising a sequence encoding Lebercilin. In another aspect, Lebercilin has an amino acid sequence of SEQ ID NO: 1. In yet another aspect, the nucleic acid molecule has a sequence of SEQ ID NO: 3 or a variant thereof. In desired embodiments, the subject is human, cat, dog, sheep, or non-human primate.

Abstract: A test of visual function and/or functional vision may be performed at varying luminance levels. A first course may be selected for a subject. A given course may comprise a layout having a beginning point, at least one turn, at least one obstacle, and an ending point. The first course may be illuminated with a first luminance level based on an estimated lower light sensitivity cutoff. The subject may be prompted to perform a first run of the test. The test may comprise, from the beginning point to the ending point, navigating the layout of the first course by walking around the at least one turn and avoiding the at least one obstacle. A determination may be made as to whether the subject successfully completed the first course based on one or both of speed or accuracy.

Abstract: A self-regulating gene expression construct comprises a single promoter in operative association with a repressor sequence (e.g., bacterial repressor lacI or gaiR), operator sequence(s) responsive to the expressed repressor protein, and a transgene. A dual-regulating construct comprises a single promoter controlling expression of a bacterial repressor sequence and a transgene, and which, in the presence of a first inducer molecule, transcribes the transgene and repressor; and a ribozyme in association with an aptamer sequence, the aptamer sequence capable of interacting with a second inducer molecule to terminate mRNA degradation by the ribozyme. Also provided are recombinant vectors or viruses containing the self-regulating or dual self-regulating constructs and cells containing the vectors. Such compositions are useful in methods of treating a diseases using gene therapy.

Abstract: Compositions are provided that comprise a recombinant vector carrying a nucleic acid sequence encoding a fragment of CEP290 lacking all or part of its N-terminal and C-terminal inhibitory regions, under the control of regulatory sequences which express the product of said gene in a selected cell of a mammalian subject, and a pharmaceutically acceptable carrier. These and other compositions are disclosed with are useful in methods for treating a mammalian subject having a disease associated with a CEP290 mutation, such as Lebers Congenital Amaurosis.

Abstract: Codon optimized nucleic acid sequences for RDH12 are provided, as well as recombinant viral vectors, such as AAV, expression cassettes, proviral plasmids or other plasmids containing the codon optimized sequence for functional RDH12. Recombinant vectors are provided that express the codon optimized, functional RDH12. Compositions containing these codon optimized sequences are useful in methods for treating, retarding or halting certain blinding diseases resulting from the absence, deficiency or inappropriate expression of RDH12. Other compositions and methods are providing for correcting a non-functional, defective or inadequately expressed native RDH12.

Abstract: Described herein are capsid proteins and adeno-associated viruses capable of targeting various types of ocular cells including bipolar and horizontal cells. Also described herein are methods of treating various ocular disorders in a subject in need thereof by administering to the subject an effective concentration of a composition comprising the recombinant adeno-associated virus (AAV) of the invention.

Abstract: Compositions are provided that comprise a recombinant vector carrying a nucleic acid sequence encoding a fragment of CEP290 lacking all or part of its N-terminal and C-terminal inhibitory regions, under the control of regulatory sequences which express the product of said gene in a selected cell of a mammalian subject, and a pharmaceutically acceptable carrier. These and other compositions are disclosed with are useful in methods for treating a mammalian subject having a disease associated with a CEP290 mutation, such as Lebers Congenital Amaurosis.

Abstract: A nucleic acid trans-splicing molecule is provided that can replace an exon in a targeted mammalian ocular gene carrying a defect or mutation causing an ocular disease with an exon having the naturally-occurring sequence without the defect or mutation. A method of treating an ocular disease, e.g., Stargardt's Disease, caused by a defect or mutation in a target gene, e.g., ABCA4 comprising: administering to the ocular cells of a subject having an ocular disease a composition comprising a recombinant AAV comprising a nucleic acid trans-splicing molecule as described above.

Abstract: Codon optimized nucleic acid sequences for the long form and short form of RdCVF are provided, as well as recombinant viral vectors, such as AAV, expression cassettes, proviral plasmids or other plasmids containing the codon optimized sequences. Recombinant vectors are provided that express the codon optimized RdCVFL and RdCVF individually, or express two copies of a codon optimized RdCVF or RdCVFL nucleic acid sequence, or both RdCVFL and RdCVF in a single vector or virus. Compositions containing these codon optimized sequences are useful in methods for treating, retarding or halting certain blinding diseases resulting from the absence or inappropriate expression of RdCVF and RdCVFL.