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PDE6B gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDE6B gene

The PDE6B gene encodes a protein subunit essential for rod cell function, which allows for vision in low-light conditions.

Normal Function

The PDE6B gene provides instructions for making a protein that is one part (the beta subunit) of a protein complex called cGMP-PDE. This complex is found in specialized light receptor cells called rods. Rods transmit visual signals from the eye to the brain specifically in low-light conditions.

When light enters the eye, cGMP-PDE is activated, breaking down molecules called GMP within the rod cell. This triggers channels on the cell membrane to close, resulting in the transmission of signals to the brain that are interpreted as vision.

Health Conditions Related to Genetic Changes

Autosomal dominant congenital stationary night blindness

At least one mutation in the PDE6B gene has been found to cause autosomal dominant congenital stationary night blindness. This mutation (His258Asp or H258N) impairs the normal function of the cGMP-PDE complex, causing it to be constantly turned on (constitutively active). Because the complex is always active, the signals that rod cells send to the brain are constantly occurring, even in bright light. The brain perceives this information as not meaningful, resulting in night blindness.

Retinitis pigmentosa

MedlinePlus Genetics provides information about Retinitis pigmentosa.

Other Names for This Gene

  • GMP-PDE beta
  • PDE6B_HUMAN
  • PDEB
  • phosphodiesterase 6B, cGMP-specific, rod, beta
  • rod cGMP-phosphodiesterase beta-subunit
  • rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

Genomic Location

The PDE6B gene is found on chromosome 4.

Frequently Asked Questions

Schedule a pre‑test counseling session to discuss the purpose, possible outcomes, and implications for family members. Provide a detailed personal and family eye‑health history, and avoid taking supplements that might interfere with DNA extraction (e.g., high‑dose vitamin C) on the day of blood draw.
CSNB caused by a PDE6B mutation follows an autosomal dominant pattern, meaning each child has a 50 % chance of inheriting the altered gene and the associated night‑vision problems, regardless of sex. Genetic counseling and testing can clarify risk for each pregnancy.
If you notice a rapid loss of peripheral vision, new onset of night blindness that worsens quickly, sudden flashes of light, or an increase in floating spots (floaters), you should be evaluated promptly, as these can signal progression to retinitis pigmentosa or other complications that may benefit from early intervention.
Currently, no cure exists, but clinical trials are exploring gene‑replacement therapy and neuroprotective agents. In the meantime, low‑vision aids, vitamin A supplementation (under physician guidance), and regular monitoring with retinal imaging can help preserve remaining vision and improve quality of life.
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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