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Ophthalmic Genet. 2013 Mar-Jun;34(1-2):101-4. doi: 10.3109/13816810.2012.726394. Epub 2012 Sep 24.

Blue cone monochromatism in a female due to skewed X-inactivation.

Author information

1
Department of Clinical Genetics, Aalborg University Hospital/Vejle Hospital, Vejle, Denmark. anja.lisbeth.frederiksen@slb.regionsyddanmark.dk

Abstract

Blue cone monochromatism (BCM) is a rare cone dystrophy with recessive X-linked inheritance and therefore diagnosed in males whereas females are clinically unaffected. We present a female with clinically manifested BCM. The diagnosis was genetically verified with the identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation c.607C>G, p.Cys203Arg that associates with BCM and in addition a completely biased X-inactivation in DNA isolated from full blood and buccal mucosa. The present case illustrates that females may develop symptoms of recessive X-linked eye diseases in rare cases.

PMID:
22998501
DOI:
10.3109/13816810.2012.726394
[Indexed for MEDLINE]

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