achromatopsia 2
Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.
MONDO:0018852
achromatopsia
is_a
MONDO:0800102
CNGA3-related retinopathy
is_a
ACHM2
exact
CNGA3 achromatopsia
exact
RMCH2
exact
achromatopsia 2
exact
achromatopsia caused by mutation in CNGA3
exact
achromatopsia type 2
exact
rod monochromacy 2
exact
rod monochromatism 2
exact