Achromatopsia 4

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PDE6C, CNGB3, CNGA3, GNAT2, ATF6, PDE6H, RPGR, CNNM4, NBAS, HBB, CABP4, PLXNA2, CNTF, COASY, NYX, CC2D2A, FRMD7, STS, NR2E3, NOC2L, CRB1, OPN1SW, RHO, PAX6, CACNA1F, POC1B

Drugs

Adeno-associated viral vector serotype 8 containing the human CNGA3 gene under the control of a cone arrestin promoter, Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Adenovirus associated viral vector serotype 2/8 containing the human CNGA3 gene, Adenovirus associated viral vector serotype 8 containing the human CNGB3 gene, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins, Recombinant adeno-associated viral vector containing the human CNGB3 gene, Recombinant adeno-associated viral vector expressing the human CNGA3 gene

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A number sign (#) is used with this entry because achromatopsia-4 can be caused by homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13.

Description

Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002).

For a general description and a discussion of genetic heterogeneity of achromatopsia, see 216900.

Inheritance

Achromatopsia-4 is an autosomal recessive disorder (Kohl et al., 2002).

Molecular Genetics

Kohl et al. (2002) reported 5 families with achromatopsia, with 4 showing homozygosity for protein-truncation mutations in the GNAT2 gene (139340.0001; 139340.0003-139340.0004).

In a consanguineous Pakistani family with achromatopsia-4, Aligianis et al. (2002) used autozygosity mapping and positional candidate gene analysis to identify a 4-bp insertion (842insTCAG) in exon 7 of the GNAT2 gene that segregated with the disease.