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.

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

3.	OMIM.ORG article Omim 613837

Update: June 23, 2025

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