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PRPH2 gene

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

PRPH2 gene

The PRPH2 gene provides instructions for making peripherin 2, a protein essential for the normal function of light-sensing photoreceptor cells in the retina.

Normal Function

The PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and color. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments.

Health Conditions Related to Genetic Changes

Vitelliform macular dystrophy

Mutations in the PRPH2 gene are responsible for some cases of adult-onset vitelliform macular dystrophy. Several mutations have been identified in people with this disorder, most of which change a single protein building block (amino acid) in peripherin 2. These mutations alter the protein's structure or lead to the production of an abnormally short, nonfunctional version of the protein. When peripherin 2 is altered or missing, photoreceptors break down (degenerate) over time. This loss of photoreceptors underlies the retinal abnormalities and progressive vision loss characteristic of vitelliform macular dystrophy.

Cone-rod dystrophy

MedlinePlus Genetics provides information about Cone-rod dystrophy.

Retinitis pigmentosa

MedlinePlus Genetics provides information about Retinitis pigmentosa.

Other retinal dystrophies

Mutations in the PRPH2 gene cause a variety of retinal disorders, including a group of disorders called pattern dystrophies of the retinal pigment epithelium. These disorders typically begin in mid-adulthood and are characterized by an abnormal buildup of pigment in cells underlying the retina.

Some PRPH2 mutations can cause different eye disorders in affected members of the same family. For example, researchers have reported a family with retinitis pigmentosa, pattern dystrophy of the retinal pigment epithelium, and retinitis punctata albescens in different individuals with the same PRPH2 mutation.

Other Names for This Gene

  • CACD2
  • peripherin 2 (retinal degeneration, slow)
  • peripherin 2, homolog of mouse
  • peripherin, photoreceptor type
  • PRPH2_HUMAN
  • RDS
  • retinal degeneration slow protein
  • retinal degeneration, slow
  • Tetraspanin-22
  • TSPAN22

Frequently Asked Questions

PRPH2 mutations are inherited in an autosomal dominant manner, meaning a single copy of the altered gene can cause disease. However, some families show variable expressivity and incomplete penetrance, so not all carriers may develop symptoms. Genetic counseling can help determine your risk and guide family planning.
Currently, there is no cure, but low‑vision aids, visual rehabilitation, and regular monitoring can help preserve function. Research is underway into gene therapy and retinal implants; clinical trials may become available for eligible patients. Discuss participation with a retinal specialist.
While no diet can cure the genetic defect, a balanced diet rich in omega‑3 fatty acids, lutein, zeaxanthin, and antioxidants may support retinal health. Avoid smoking, protect eyes from UV light, and maintain regular eye check‑ups to catch changes early. Consult a nutritionist or ophthalmologist for personalized advice.
Patients with PRPH2 mutations often notice a gradual loss of central vision, difficulty recognizing faces, or a yellowish spot in the center of the visual field. Early symptoms may include blurred vision, reduced color discrimination, or a slight darkening of the central retina. If you notice any of these changes, schedule an eye exam with an ophthalmologist who can perform optical coherence tomography (OCT) to detect early retinal changes.
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.