Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 11

Leber congenital amaurosis 11 is an autosomal dominant disorder caused by mutations of the IMPDH1 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
Leber congenital amaurosis 02
Leber congenital amaurosis 03
Leber congenital amaurosis 04
Leber congenital amaurosis 05
Leber congenital amaurosis 06
Leber congenital amaurosis 07
Leber congenital amaurosis 08
Leber congenital amaurosis 09
Leber congenital amaurosis 10
Leber congenital amaurosis 11
IMPDH1
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Bowne SJ et. al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

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2.

Chung DC et. al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

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Update: Sept. 26, 2018