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RPE65 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPE65 gene

The RPE65 gene produces an enzyme essential for the visual cycle, the process by which the retina recycles light-sensitive molecules.

Normal Function

The RPE65 gene provides instructions for making a protein essential for normal vision. This protein is produced in the retinal pigment epithelium (RPE), a layer of cells that supports the retina. RPE65 acts as a key enzyme in the visual cycle (also called the retinoid or vitamin A cycle).

During this cycle, light exposure changes 11-cis retinal into all-trans retinal, triggering electrical signals. The RPE65 protein later converts all-trans retinyl ester back into 11-cis retinol, allowing the visual cycle to begin again.

Health Conditions Related to Genetic Changes

Leber congenital amaurosis

Pathogenic variants in the RPE65 gene cause Leber congenital amaurosis type 2, a group of eye disorders that affect the retina. This condition typically results in vision loss beginning in the first year of life.

Variants in this gene lead to a partial or total loss of RPE65 protein function. This impairs the recycling of vitamin A, disrupts photoreceptor function, and causes a buildup of toxic molecules in the RPE, leading to retinal degeneration.

Other Associated Conditions

  • Fundus albipunctatus
  • Retinitis pigmentosa

Genomic Location

The RPE65 gene is found on chromosome 1.

Other Names for This Gene

  • all-trans-retinyl-palmitate hydrolase
  • BCO family, member 3
  • BCO3
  • LCA2
  • rd12
  • retinol isomerase

Frequently Asked Questions

RPE65-related conditions like Leber congenital amaurosis type 2 are inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the altered RPE65 gene (one from each parent) to develop the condition. Parents who each carry one copy of the altered gene are typically unaffected but have a 25% chance with each pregnancy of having a child with the condition.
Children with RPE65 gene mutations, particularly those leading to Leber congenital amaurosis type 2 (LCA2), typically show severe vision loss starting in their first year of life. Parents might notice their infant has poor tracking of objects, nystagmus (involuntary eye movements), or photophobia (sensitivity to light). They may also have difficulty navigating in dim light or darkness.
Yes, there is a gene therapy treatment available for certain RPE65-related retinal dystrophies, including LCA2. This therapy involves injecting a modified virus carrying a healthy copy of the RPE65 gene into the retina, which can help restore the visual cycle and improve vision in eligible patients. Early diagnosis and treatment are often key for the best outcomes.
Besides Leber congenital amaurosis type 2, mutations in the RPE65 gene can also be associated with other retinal conditions such as Fundus albipunctatus and certain forms of Retinitis pigmentosa. These conditions also involve progressive vision loss due to impaired function of the visual cycle and retinal degeneration, though their onset and severity can vary.
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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