Abstract: The present invention relates to an expression cassette allowing expression of a functional LRIT3 protein in mammal eyes; said expression cassette is inserted in an expression vector, preferably an adeno-associated virus (AAV); accordingly, the present invention further relates to a recombinant adeno-associated virus (AAV) vector carrying a nucleic acid sequence encoding a normal LRIT3 gene, or fragment thereof, under the control of regulatory sequences which express the product of the gene in the ocular cells, a pharmaceutically acceptable composition comprising such a recombinant AAV vector and to its use for the treatment of congenital stationary night blindness

Abstract: The present invention relates to an in vitro method for diagnosing a complete congenital stationary night blindness (cCSNB) in a subject, which method comprises determining the presence of an alteration in the GPR179 gene in a biological sample of said subject. Screening methods and therapeutic applications are further described.

Abstract: The present invention relates to a method of identifying a subject having or at risk of having or developing a retinitis pigmentosa, comprising detecting in a sample obtained from said subject, the presence of at least one mutation in the rhodopsin (RHO) gene selected from the group consisting of c.263T>C, c.620T>A and c. 1031A>C wherein the presence of said mutation indicates an increased risk of having or being at risk of having or developing the retinitis pigmentosa.