Mutations of the GPR179 Gene in Congenital Stationary Night Blindness

An in vitro method for determining the risk for a subject to transmit an autosomal recessive complete congenital stationary night blindness (cCSNB) to his/her progeny, which method comprises determining the presence of an alteration in the GPR179 gene in a biological sample of said subject.

An in vitro method of selecting compounds as candidate medicaments for treating autosomal recessive cCSNB, said method comprising contacting a test compound with a GPR179 protein or gene or a fragment thereof and determining the ability of said test compound to bind the GPR179 protein or gene or a fragment thereof.

An in vitro method of selecting compounds as candidate medicaments for treating autosomal recessive cCSNB, said method comprising contacting a test compound with a recombinant host cell expressing a GPR179 protein, and determining the ability of said test compound to bind said GPR179 protein and to modulate the activity of GPR179 protein.

An in vitro method of selecting compounds as candidate medicaments for treating autosomal recessive cCSNB, said method comprising contacting a test compound with a GPR179 gene and determining the ability of said test compound to modulate the expression of said gene.

An in vitro method of selecting compounds as candidate medicaments for treating autosomal recessive cCSNB, said method comprising contacting a test compound with a recombinant host cell comprising a reporter construct, said reporter construct comprising a reporter gene under the control of a GPR179 gene promoter, and selecting the test compounds that modulate expression of the reporter gene.

The use of a compound selected from the group consisting of a nucleic acid encoding GPR179 protein or a ligand, preferably an agonist, of GPR179, in the manufacture of a pharmaceutical composition for treating autosomal recessive cCSNB in a subject.