Leber congenital amaurosis 11
Leber congenital amaurosis 11 is an autosomal dominant disorder caused by mutations of the IMPDH1 gene.
Bowne SJ et. al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.[^]
Chung DC et. al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.[^]