achromatopsia 3

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achromatopsia 32016-11-24T11:51:08+00:00

achromatopsia 3

NEUROLOGY

Definition An autosomal recessive ocular stationary disorder (OMIM:262300) affecting the Pingelapese people of the eastern Caroline Islands (the Pacific) caused by the absence of functioning cone photoreceptors in the retina. It is clinically characterised by total colour blindness, low visual acuity, severe myopia, photophobia, and horizontal pendular nystagmus.  

Molecular pathology Defects of CNGB3, which encodes a subunit of a cyclic nucleotide-gated ion channel that plays a role in modulating the channel function in cone photoreceptors, cause  achromatopsia 3 (OMIM:262300). 

Synonyms Achromatopsia with myopia, Pingelapese blindness, rod monochromacy 1 (formerly), rod monochromatism 1 (formerly), total colourblindness with myopia 

References http://www.uniprot.org/uniprot/Q9NQW8

http://www.omim.org/entry/262300 

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