Achromatopsia

Achromatopsia
Other names	Rod Monochromacy
Specialty	Ophthalmology
Symptoms	Monochromacy, Day blindness, Photophobia
Causes	Congenital malfunction of the Visual phototransduction pathway
Diagnostic method	Electroretinography
Frequency	⁠1/30,000⁠ × 100% = 0.0033%

Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide.