BCD Misdiagnosis

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  • #1250
    P01P01
    Participant

    BCD is often misdiagnosed as other types of retinal degenerative diseases, such as Stargardt Disease or as Retinitis Pigmentosa (RP) in general. If you have been misdiagnosed or if you know someone who has BCD but was misdiagnosed initially, please feel free to share your experience here. It would be helpful to also mention what helped to make the correct diagnosis, for example, was it by a doctor who has experience in diagnosing BCD, or by genetic testing?

    #1313
    IsoIso
    Participant

    First diagnosed as Stargardt, but then correctly diagnosed as BCD by an experienced doctor. Later confirmed by genetic testing.

    #1509
    invincibleuinvincibleu
    Participant

    I have been in consultation with ophthalmologists and retinal specialists from the age of 10. My retina has been checked by at-least 5 doctors until the age of 29. Only after I lost vision in my right eye (due to Choroidal Neo Vascular Membrane – another idiopathic rare occurrence in a young person), was a doctor able to correctly diagnose BCD and the same was confirmed by genetic pheno-typing. Post that,  I have consulted several doctors for second opinions. If my memory serves me right, only 1 out of 5 doctor was aware of BCD and had seen a patient before. There is a huge awareness deficit about BCD.

    #1534
    P01P01
    Participant

    Interesting that you mentioned you started seeing retinal specialists from the age of 10. For most BCD patients, first noticeable symptoms begin in 20s or 30s. But there are BCD patients whose disease onset is earlier. My elder sister experienced night blindness when she was a teenager. There are case reports of paediatric patients. I will start a topic on BCD paediatric cases and include the published case reports there.

    #1561
    the_35th_owlthe_35th_owl
    Participant

    I was self-disguised. I got my Fundus photos from one of my eye doctors. I Googled something like “images of the retina, crystals, retinal degeneration, night blindness, vision loss”, and BCD popped out. Last year, my diagnosis was confirmed by a DNA test. I have seen a dozen of ophthalmologists, in China, in Switzerland, and in the United States. None of them was able to tell me that I had BCD (until I told them). They are not to be blamed. It’s just a very rare disease. This is why we need to promote BCD awareness.

    #1567
    P01P01
    Participant

    To put the BCD misdiagnosis problem into context, several factors to consider.
    1.   There are more than 200 genes whose mutations can cause blindness. Many retinal degenerative diseases share similar phenotypes. Therefore, it is difficult to correctly diagnose an inherited retinal disease based on clinical symptoms and phenotypes alone. The following paper is a good example of this problem. Patients in this study suffer from various retinal diseases (including BCD which was referenced as CYP4V2 in the paper) but were correctly diagnosed only after next-generation sequencing. Patients were recruited from some key eye centers in the U.S., Canada and the UK.
    Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. (2014) Hum Genet;133(3):331–345.
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945441/

    2.   Among retinal diseases, BCD are often misdiagnosed due to:
    –       Crystals in the retina is not unique to BCD. There are other types of crystalline retinopathies which also have crystals in the retina.
    –       Crystal deposits may not be obvious in some early- or late-stage BCD patients.
    Hence, BCD is often diagnosed as Retinitis Pigmentosa (RP) in general, or as Stargardt’s disease, choroideremia or other retinal degenerative diseases, or sometimes even totally missed.

    Researchers suggested infrared imaging can help improve BCD clinical diagnosis. Genetic testing of CYP4V2 mutations is the ultimate tool to confirm BCD diagnosis. For more info on BCD misdisangosis, see https://www.invinciblevision.org/bcd-and-misdiagnosis/misdiagnosis-and-underdiagnosis/

    #1689
    P01P01
    Participant

    To help improve BCD awareness, ERN-Eye (European Reference Network dedicated to rare eye diseases) distributed BCD info to all of its centres last week. Step by step, with help and support from organisations such as ERN-Eye, we hope more and more eye doctors will become aware of BCD. This will ensure a higher percentage of BCD patients to get correctly diagnosed.

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