Leber congenital amaurosis

Table 1. Selected pathogenic mutations in GC1 (Additional mutations can be found in (Hanein et al., 2004)). LCA1, Leber congenital amaurosis type 1 ar, autosomal recessive ad, autosomal dominant RP, retinitis pigmentosa CORD, cone-rod dystrophy IRP, juvenile isolated RP fs, frameshift mis, missense splice, splice site mutation non, nonsense mutation...

Gene Therapy Rescue of Visual Functions in a Blind Mouse Model of Leber Congenital Amaurosis. PLoS. Med. 2 e333. 

El-Shanti, H., Al-Salem, M., El-Najjar, M., Ajlouni, K., Beck, J., Sheffiled, V.C., and Stone, E.M. (1999). A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. J. Med. Genet. 36 862-865. 

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. 

There has been reported success in using gene therapy for a type of inherited blindness, Leber congenital amaurosis. 

CRX Mutation R90W Leber congenital amaurosis Hum Mol Genet, 1999. 8(2) p. 299-305. 

Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP (1998) Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci USA 95 3088-3093... 

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