Achromatopsia [9 genes]

Achromatopsia is characterized by the absence or deficiency in the functioning cones. This leads to reduced visual acuity, pendular nystagmus, photophobia, and mild or complete loss of color discrimination.

All individuals with achromatopsia have altered color discrimination in the three axes corresponding to the three classes of cones. Most individuals have complete achromatopsia, with a complete absence of function of all three types of cones. Rarely do individuals have incomplete achromatopsia, in which one or more types of cones may partially function. Although the fundus is usually normal, in some affected people, there may be macular changes and narrowing of blood vessels.

The prevalence of the disease is estimated at 1/30,000 individuals globally.

The estimated incidence is 1/30,000 newborns.

If there is a clinical suspicion of achromatopsia based on the clinical history and ophthalmological examination, it is recommended to consider requesting this service.

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Achromatopsia

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Technique: Exome

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Ref. S-202313103

Achromatopsia: View panel

Virtual panel based on whole exome sequencing, aimed at simultaneous analysis of all genes related to achromatopsia based on current literature.

  • ATF6
  • CNGA3
  • CNGB3
  • GNAT2
  • OPN1LW
  • OPN1MW
  • PDE6C
  • PDE6H
  • OPN1SW

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Achromatopsia

References

  1. Kohl S, Jägle H, Wissinger B, et al. Achromatopsia. 2004 Jun 24 [Updated 2018 Sep 20]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022