Frederiksen Anja L, Duno Morten, Welinder Lotte G
Department of Clinical Genetics, Aalborg University Hospital/Vejle Hospital, Vejle, Denmark.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):101-4. doi: 10.3109/13816810.2012.726394. Epub 2012 Sep 24.
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.
蓝色视锥细胞单色性（BCM）是一种罕见的视锥细胞营养不良症，呈X连锁隐性遗传，因此通常在男性中被诊断出来，而女性在临床上没有症状。我们报告了一名有BCM临床表现的女性。通过鉴定出一个单一的红绿视蛋白OPN1LW/MW杂合基因，该基因携带与BCM相关的点突变c.607C>G、p.Cys203Arg，并且从全血和口腔黏膜分离的DNA中存在完全偏向的X染色体失活，从而在基因层面证实了诊断。本病例表明，在罕见情况下，女性也可能出现X连锁隐性眼病的症状。
