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.
Ophthalmic Genetics, 2012, Vol 34, Issue 1-2, p. 101-4
Case Reports; Journal Article; Child, Preschool; Color Perception Tests; Color Vision Defects; Electroretinography; Female; Humans; Male; Pedigree; Point Mutation; Polymerase Chain Reaction; Rod Opsins; Tomography, Optical Coherence; Vision Disorders; Visual Acuity; X Chromosome Inactivation