1 Department of Clinical Medicine - Department for Clinical Genetics, Department of Clinical Medicine, Health, Aarhus University2 Department of Clinical Medicine - Øjenafdelingen, Aalborg Sygehus, Department of Clinical Medicine, Health, Aarhus University3 Klinisk Genetisk Afdeling, Aalborg Sygehus, Faculty of Health Sciences, Aarhus University, Aarhus University4 unknown5 Department of Clinical Medicine, Health, Aarhus University6 Department of Clinical Medicine, Health, Aarhus University
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
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