Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Genetic disease is a common cause of bilateral childhood cataract in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

    Research output: Contribution to journalReviewResearchpeer-review

  4. Vitamin A in Stargardt disease-an evidence-based update

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Leber hereditary optic neuropathy due to a new ND1 mutation

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Myopathy can be a key phenotype of membrin (GOSR2) deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Anja Lisbeth Frederiksen
  • Morten Duno
  • Lotte Gjesing Welinder
View graph of relations
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 languageEnglish
JournalOphthalmic Genetics
Volume34
Issue number1-2
Pages (from-to)101-4
Number of pages4
ISSN1381-6810
DOIs
Publication statusPublished - 2014

    Research areas

  • 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

ID: 42980035