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CACNA1F gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CACNA1F gene

The CACNA1F gene provides instructions for making a calcium channel subunit essential for transmitting visual signals from the retina to the brain.

Normal Function

The CACNA1F gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.

The CACNA1F gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.4. This subunit forms the hole (pore) in the cell membrane through which calcium ions can flow. CaV1.4 channels are found in many types of cells, although they play a particularly important role in a specialized tissue at the back of the eye called the retina. Within the retina, the channels are located in light-detecting cells called photoreceptors (rods and cones). CaV1.4 channels play a critical role in normal vision by helping relay visual signals from rods and cones to other retinal cells called bipolar cells.

Health Conditions Related to Genetic Changes

X-linked congenital stationary night blindness

Variants (also called mutations) in the CACNA1F gene have been identified in people with X-linked congenital stationary night blindness. CACNA1F gene variants are responsible for the incomplete form of the disorder. People with this form of the disorder have vision problems such as increased sensitivity to light (photophobia), a loss of sharpness (reduced acuity), and involuntary movements of the eyes (nystagmus). Many affected individuals also have difficulty seeing in low light (night blindness).

Variants in the CACNA1F gene change the structure of the alpha-1 subunit. These changes make it difficult for CaV1.4 channels to transport calcium ions across the cell membrane of photoreceptor cells. A loss of calcium ion transport disrupts the ability of both rods and cones to transmit visual signals, which impairs vision.

Cone-rod dystrophy

MedlinePlus Genetics provides information about Cone-rod dystrophy.

Other disorders

Variants in the CACNA1F gene can cause another rare disorder that impairs vision known as Åland Islands eye disease. This condition causes vision problems similar to those seen in people with X-linked congenital stationary night blindness. Åland Islands eye disease (also known as Forsius-Eriksson syndrome) is characterized by reduced visual acuity, nystagmus, an irregular curvature of the front part of the eye (astigmatism), nearsightedness (myopia), abnormal color vision, and night blindness.

Other Names for This Gene

  • CAC1F_HUMAN
  • Cav1.4
  • Cav1.4alpha1

Frequently Asked Questions

blood sample or cheek swab is sent for targeted next‑generation sequencing of the CACNA1F gene. The test looks for point mutations, insertions, or deletions that alter the alpha‑1 subunit of the CaV1.4 channel. Results are typically available in 2–4 weeks.
While the genetic defect cannot be reversed, using high‑contrast visual aids, ensuring adequate lighting, and wearing sunglasses to reduce photophobia can improve daily functioning. Some patients benefit from low‑dose beta‑blockers to reduce nystagmus, but treatment should be guided by an ophthalmologist.
If a child or adult experiences sudden difficulty seeing in low light, frequent flashes of light, or involuntary eye movements (nystagmus) that are not explained by other eye conditions, a clinician may order genetic testing for CACNA1F variants. Early referral to a neuro-ophthalmologist can help confirm the diagnosis.
Research is ongoing into gene‑replacement and antisense therapies that aim to restore normal CaV1.4 channel function. Clinical trials are still in early phases, so these options are not yet available outside of research settings. However, staying informed about trial enrollment can provide access to cutting‑edge treatments.===
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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