Leber’s congenital amaurosis

Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GCl) gene mutation linked with Leber s congenital amaurosis. Biochemistry 38 509-515,... 

There are several FKBP genes reported to have a defective function in inherited diseases, such as the Williams Beuren syndrome (Williams syndrome) and Leber s congenital amaurosis for FKBP36 (FKBP6) and FKBP44 (AIPL1) mutations, respectively [97-99],... 

From the standpoint of retinal disorders, rAAV has also demonstrated great promise in preclinical trials for Leber s congenital amaurosis (LCA). LCA is a very severe retinal degenerative disease that leads to childhood blindness. The genetic defect in LCA is the loss of a 65-kD membrane protein called RPE65. 

Rozet, J.M., Perrault, I., Gerber, S., Hanein, S., Barbet, F., Ducroq, D., Souied, E., Munnich, A., and Kaplan, J. (2001). Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). Invest Ophthalmol. Vis. Sci 42 1190-1192. 

Tucker, C.L., Ramamurthy, V., Pina, A.L., Loyer, M., Dharmaraj, S., Li, Y., Maumenee, I.H., Hurley, J.B., and Koenekoop, R.K. (2004). Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients protein domain comparisons and dominant negative effects. Mol. Vis. 10 297-303. 

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