Achromatopsia-August 2020

A 21-year-old male who stated that he has not been able to distinguish colors since his childhood presented with bilateral nystagmus. Bilateral visual acuity was measured as 1/10  He could not read any plate of Ishihara color blindness test correctly. The multicolor image, fundus autofluorescence image and OCT image of both eyes are shown below. Could you determine the correct diagnosis?

The answer to the question is ‘’Achromatopsia’’. As a result of the lottery drawn among those who answered the question correctly, Mr. Ozgur Yalcinbayir won this month’s book prize. Congratulations to him.

Acromatopsy is characterized by abnormal color vision, photophobia, nystagmus and visual acuity impairment, and is the most severe form of congenital color vision deficiencies. Inheritance in complete acromatopsy is autosomal recessive. There is severe loss of function in cone photoreceptors, and vision is dominated by rods. Autosomal recessive incomplete acromatopsy is similar to complete achromasia, but some cone function is preserved.



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