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CEP290 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CEP290 gene

The CEP290 gene provides instructions for making a protein essential for the structure and function of cilia, which are critical for sensory perception and cell health.

Normal Function

The CEP290 gene provides instructions for making a protein that is present in many types of cells, including the eye's light-sensing cells, known as photoreceptors. These cells are found in the specialized tissue at the back of the eye that detects light and color.

Studies suggest that the CEP290 protein plays an important role in cell structures called centrosomes and cilia. Centrosomes are involved in cell division and the assembly of microtubules—fibers that help cells maintain their shape, assist in cell division, and transport materials within cells.

Cilia are microscopic, finger-like projections found in many cell types. Primary cilia are necessary for the perception of sensory input, such as vision, hearing, and smell. In photoreceptors, the connecting cilium links the inner and outer segments of the cell. Within this structure, CEP290 proteins help anchor microtubules and regulate the transport of proteins between the two segments, which is vital for maintaining the normal structure and function of the retina.

Health Conditions Related to Genetic Changes

Leber congenital amaurosis

Pathogenic variants in the CEP290 gene can cause Leber congenital amaurosis type 10, a group of eye disorders affecting the retina. These variants account for 15 to 20 percent of all cases of Leber congenital amaurosis.

  • The most common pathogenic variant is 2991+1655A>G, which creates a premature stop signal, reducing the number of functional proteins.
  • These variants are thought to impair the transport of essential proteins within photoreceptors, causing them to malfunction and leading to characteristic visual impairment.

Other Related Conditions

Genetic changes in the CEP290 gene are also associated with the following conditions:

  • Bardet-Biedl syndrome
  • Joubert syndrome
  • Meckel syndrome
  • Senior-Løken syndrome

Other Names for This Gene

  • Bardet-Biedl syndrome 14
  • BBS14
  • JBTS5
  • Joubert syndrome 5
  • KIAA0373
  • LCA10
  • Meckel syndrome, type 4
  • MKS4
  • nephrocytsin-6
  • NPHP6
  • SLSN6

Genomic Location

The CEP290 gene is found on chromosome 12.

Frequently Asked Questions

Regular ophthalmic exams (every 6–12 months) to monitor retinal changes, use of protective sunglasses to reduce phototoxicity, and low‑vision rehabilitation (magnifiers, high‑contrast devices) are key. Encourage a balanced diet rich in omega‑3 fatty acids and lutein, avoid smoking, and ensure proper lighting at home and school to reduce visual strain.
Yes. An antisense oligonucleotide therapy (e.g., sepofarsen) received FDA approval for patients with the specific 2991+1655A>G mutation, showing modest improvements in visual function. Additional gene‑replacement trials using adeno‑associated virus vectors are recruiting. Discuss eligibility with a retinal specialist and consider enrolling in a trial if appropriate.
LCA10 caused by CEP290 mutations follows an autosomal recessive pattern. Both parents must carry one pathogenic copy of the gene. Each pregnancy has a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of a child with two normal copies. Genetic counseling and carrier testing for the parents and extended family are recommended.
The 2991+1655A>G change creates a cryptic splice site that leads to a premature stop codon, reducing functional CEP290 protein. It typically results in severe early‑onset visual impairment, but the degree can vary. Some patients retain light perception into adulthood, while others become legally blind early. Ongoing monitoring and low‑vision support are essential.
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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