• Test Code:
  • Department:
  • Test Synonyms:
    Achromatopsia SequencingAutosomal Recessive Stargardt Disease Pingelapese AchromatopsiaPingelapese Blindness; Rod Monochromatism 2
  • CPT Code(s):
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Achromatopsia is characterized by reduced visual acuity (<0.1 or 20/200), nystagmus, sensitivity to light, small central scotoma, eccentric fixation and reduced or complete loss of color discrimination.  The diagnosis is based on color vision testing, electroretinography, and fundus examination.  Known genetic causes of this disorder are mutations in the cone cell subunits alpha, CNGA3, and beta, CNGB3.  Mutations in CNGB3 account for 50% of the affected individuals1,2, and 25% harbor mutations in CNGA33,4.

Reasons for Referral:

  • Confirmation of clinical diagnosis in patients with classical or atypical Achromatopsia.
  • Carrier testing of family members of Achromatopsia patients with known mutations.

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

The 2 Achromatopsia-associated genes are listed below:


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  1. Kohl, et al. Eur J Hum Genet 13, 302-308 (2005).
  2. Kohl, et al. Hum Mol Genet 9, 2107-2116 (2000).
  3. Wissinger, et al. Am J Hum Genet 69, 722-737 (2001).
  4. Kohl, et al. Nat Genet 19, 257-259 (1998).
  5. Human Genome Mutation Database: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CNGA3.

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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