The Clinical Diagnosis And Treatment Of Achromatopsia.

Congenital achromatopsia (meaning without color vision) or rod monochromacy is a rare hereditary vision disorder that affects 1 in 33,000 people in the United States. It is a
stable condition that is often overlooked or misdiagnosed, because so many eye care
professionals are unaware that this condition exists. It is classified according to the mode of inheritance as either autosomal recessive (AR) or X-linked (XL). The AR achromats are further divided into complete achromats and incomplete achromats. Regardless of the inheritance pattern, almost all persons affected have reduced visual acuity, severe photophobia, poor to no color discrimination abilities, nystagmus and a reduced photopic electroretinogram (ERG). Unfortunately these patients must not only deal with the ocular complications, but also social stigmas that accompany this condition. Despite these serious signs and symptoms, there are ophthalmic options available to improve the quality of life for these patients.