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.
Original language | English |
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Journal | Ophthalmic Genetics |
Volume | 34 |
Issue number | 1-2 |
Pages (from-to) | 101-4 |
Number of pages | 4 |
ISSN | 1381-6810 |
DOIs | |
Publication status | Published - 2013 |