Conditions / Genetic

achromatopsia 2

info · Genetic

An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.

Signs and symptoms

Undetectable light-adapted electroretinogram
Myopic astigmatism
Hemeralopia
Nystagmus
Photophobia
Reduced visual acuity
Achromatopsia
Retinal thinning on OCT
Peripapillary atrophy
Dull foveal reflex

Also known as: ACHM2; RMCH2; rod monochromacy 2; rod monochromatism 2