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

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  • Anja Lisbeth Frederiksen
  • Morten Duno
  • Lotte Gjesing Welinder
Vis graf over relationer
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.
OriginalsprogEngelsk
TidsskriftOphthalmic Genetics
Vol/bind34
Udgave nummer1-2
Sider (fra-til)101-4
Antal sider4
ISSN1381-6810
DOI
StatusUdgivet - 2014

ID: 42980035