Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 16

Leber congenital amaurosis 16 is an autosomal recessive disorder caused by mutations of the KCNJ13 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
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
KCNJ13
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Sergouniotis PI et. al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

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2.

Khan AO et. al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

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3.

Pattnaik BR et. al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

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Update: Sept. 26, 2018