Achromatopsia is a rare autosomal recessive inherited disorder defined by loss of cone cell function in the retina. It is affecting approximately one in 40,000 live births worldwide. Parental consanguinity may contribute to the increased incidence of this disease. The prevalence of this condition is particularly high on the small atoll of Pingelap in the Western Pacific. Approximately 4-10 % of the population there is affected, with approximately 30% of people being carriers. It is classically presenting with color blindness, photophobia, nystagmus and decreased visual acuity. Signs and symptoms may vary depending on whether the patient has a complete or incomplete form of the disease. There are 6 genes that have been associated with this disease: CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6. All of them encode crucial components of the cone phototransduction cascade. Diagnostic options include clinical evaluation, family history, electrophysiological tests, optical coherence tomography (OCT), fundus autofluorescence, color vision test and genetic testing. There is currently no cure for achromatopsia, so treatments like wearing filtered glasses and contact lenses, the use of color recognizing devices and other technological aids are usually focused on improving quality of life. Enormous efforts have been made to identify a definitive treatment for this disease. Since achromatopsia is an autosomal recessive disorder, one of the main therapeutic approaches that has been explored is a gene therapy.