Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

doi:10.1017/S095252380623308X

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Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

Visual neuroscience - 1 Jan 2000

Goto-Omoto Satoshi, Hayashi Takaaki, Gekka Tamaki, Kubo Akiko, Takeuchi Tomokazu, Kitahara Kenji

Abstract excerpt

Congenital achromatopsia is a stationary retinal disorder with autosomal recessive inheritance that is characterized by loss of color discrimination, low visual acuity, photophobia, and nystagmus. This disorder has been shown to be associated with CNGA3, CNGB3, and GNAT2 mutations, and the frequency of mutations in the CNGA3 gene (encoding alpha subunit of the cone-specific cGMP-gated cation channel) was 23-33%...

Topics

Adult
Arginine
Color Perception Tests
Color Vision Defects
Cyclic Nucleotide-Gated Cation Channels
DNA Mutational Analysis
Electroretinography
Family Health
Female
Humans
Ion Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Japan

Leucine

Male

Mutation

Photic Stimulation

Proline

Tryptophan

Source

Open in PubMed

Identifiers

PMID: 16961972
DOI: 10.1017/S095252380623308X

Genes

CNGA3
CNGB3
GNAT2

Variants

Provenance

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