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PDE6C gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDE6C gene

The PDE6C gene provides instructions for creating a critical enzyme component in cone cells, which are essential for daylight and color vision.

Normal Function

The PDE6C gene provides instructions for making one part (called the alpha-prime subunit) of an enzyme called cone-specific phosphodiesterase. This enzyme is found exclusively in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including color vision.

When light enters the eye, it stimulates specialized pigments in photoreceptor cells, triggering a series of chemical reactions known as phototransduction. Cone-specific phosphodiesterase carries out one of the reactions in this process by converting a molecule called cGMP to 5'-GMP. This conversion causes certain channels on the cell membrane to close, triggering the transmission of visual signals to the brain.

Health Conditions Related to Genetic Changes

Achromatopsia

MedlinePlus Genetics provides information about Achromatopsia.

Cone-rod dystrophy

MedlinePlus Genetics provides information about Cone-rod dystrophy.

Other Names for This Gene

  • ACHM5
  • cGMP phosphodiesterase 6C
  • COD4
  • cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
  • PDEA2
  • phosphodiesterase 6C, cGMP-specific, cone, alpha prime

Genomic Location

The PDE6C gene is found on chromosome 10.

Frequently Asked Questions

pathogenic PDE6C variant disrupts the cone‑specific phosphodiesterase needed for daylight and color vision. Children typically have very poor visual acuity (often 20/200 or worse), absent color perception, and photophobia. Vision does not improve over time, but low‑vision aids, tinted lenses, and early visual rehabilitation can maximize functional independence.
Genetic testing is performed on a blood or saliva sample using a targeted retinal‑disease panel or whole‑exome sequencing that includes PDE6C. Testing is recommended when a child shows congenital nystagmus, severe photophobia, and lack of color discrimination, especially if an eye exam shows normal retinal structure but absent cone function on electroretinography. Early diagnosis helps guide management and family counseling.
Currently there is no cure, but protecting the retina from excessive light exposure (using sunglasses or photochromic lenses) may reduce discomfort. Clinical trials are investigating gene‑replacement therapy and pharmacologic agents aimed at restoring PDE6C function; enrollment eligibility depends on age, disease stage, and trial location. Regular follow‑up with a retinal specialist is essential to monitor progression and discuss emerging therapies.
In PDE6C‑related cone‑rod dystrophy, cone dysfunction is present from birth, and rod involvement may progress slowly, leading to night‑vision decline in adolescence or early adulthood. Annual comprehensive eye exams, including visual acuity, color testing, and retinal imaging, are advised. More frequent visits (every 6 months) may be needed if symptoms change rapidly or if a clinical trial is being considered.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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