Diagnosis of Achromatopsia

Diagnosis of Achromatopsia:

Clinical Opthalmological examination will be done for diagnosing Achromatopsia.

Psychological examination (i.e. color vision), electrophysiological testing (i.e. electroretinography ERG) will be done.

Optical coherence tomography will show progressive disruption, in few cases, along with loss of outer or inner segment junction of photoreceptors & attenuation of retinal pigment epithelium (RPE) within macular area.

Verification of the diagnosis of Achromatopsia will be done through molecular genetic analysis of responsible genes.

Blue cone monochromatism or BCM, etc cone dystrophies along with cerebral achromatopisa will be done as a part of differential diagnosis.

At-risk couples can go for prenatal diagnosis at specialized labs so as to know if their child will have chances to get this Achromatopsia disorder.