Emily’s story is not uncommon, majority of BCD patients have initially gotten a misdiagnosis; retina specialists agree that many more are likely living with a misdiagnosis.
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What might the crystals look like in a person’s eyes if they have #Biettis Crystalline Dystrophy (BCD)?
BCD is often misdiagnosed as #Retinitis Pigmentosa, #Choroideremia, #Stargardt Disease, dominant forms of RPE65, Late-Onset Retinal Degeneration, etc.
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Are you an RP patient? Do you have crystals in the retina? If so, you may have Bietti’s Crystalline Dystrophy (BCD). BCD is an autosomal recessive #RetinitisPigmentosa (RP) caused by mutations in the CYP4V2 gene. Potential treatments are being developed for BCD @ReflectionBio
BCD is a rare mis/underdiagnosed disease that causes night blindness, distorted vision, light sensitivity, reduced acuity & contrast sensitivity, blind spots, impaired color vision and finally legal blindness.
#youarenotalone#rareeyedisease#share4rare#eye#eurordis#hope