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. @Invisionbcd
#BiettiCrystallineDystrophy (BCD) worldwide genetic prevalence.
This in-depth study published in TVST @ARVOtvst estimates that there are 67,000 BCD patients worldwide. This study was a collaboration between Dr. Dror Sharon and ReflectionBio. https://t.co/c9CgPNnx6m
Life is full of silver linings. One of those silver linings is the progress that @reflectionbio is making in gene therapy. Make this silver lining a little brighter by donating to Invincible Vision!
https://t.co/WDs6SXGEAJ
#InternationalWomensDay#womenshealth#womensday2021
@Invisionbcd@rothys Thank you. Stories like this help us to persevere in light of tremendous difficulties and in the process of going blind to drive BCD gene therapy R&D. #ByPatientsForPatients
We are proud to partner with @Invisionbcd in the BY PATIENTS, FOR PATIENTS ™ campaign for #BiettiCrystallineDystrophy (BCD). BCD is a rare blinding disease. It is often misdiagnosed as #RetinitisPigmentosa (RP) or Stargardt Disease. https://t.co/atbaCvBVOu
Here is my latest animation on #GeneTherapy for Genetic Eye Diseases. It explains the principles in simplified way. Thanks to Charlotte Patten @MoorfieldsBRC and @swing4cat for their technical skills! Hope you ❤️ it! https://t.co/1z8FjKoaQ4
BCD Around the World. East Asia #2: In this paper published by researchers in Japan, 2 patients (52-year-old male & 52-year-old female) were diagnosed of Bietti’s Crystalline Dystrophy (BCD), a rare blinding disease.
https://t.co/2D15XyAXsu
BCD Around the World. East Asia #1: In this paper published by researchers in Japan, 3 Japanese female patients (47, 55 & 56-year-old) were diagnosed of Bietti’s Crystalline Dystrophy (BCD), a rare blinding disease. https://t.co/AEugTIp4xC
BCD Around the World. Europe #1: In this paper published by researchers in the U.S., Switzerland, Japan and China, 23 patients were reported to have Bietti’s Crystalline Dystrophy #BCD. #BiettisCrystallineDystrophy#BiettiCrystallineDystrophy
https://t.co/yzIflz0lRB
@PBA_savingsight @spark_tx Thank you for promoting awareness on RP and IRDs. When you include more IRDs on your website, could you consider adding Bietti's Crystalline Dystrophy (BCD)? BCD is an often misdiagnosed IRD. More info about BCD is at https://t.co/N42O3CLpFx
ReflectionBio is proud to be part of the Orphan Drug Development Guidebook Task Force @IRDiRC. We are grateful for the opportunity to work closely with such a diverse group of orphan drug experts from different parts of the world. #RareDiseases#OrphanDrug
🆕 appointment of the #irdirc Orphan Drug Development Guidebook, today we discover the Technical Experts Affiliations that have work on this important project!
Thank you!
👉https://t.co/MSQ4h4VTlm
#rarediseases@SanRaffaeleMI@LeuvenU@Roche
BCD Misdiagnosis 2: The clinical symptoms and findings on visual field testing and electrophysiologic studies in Bietti Crystalline Dystrophy #BCD are similar to those of other forms of retinal degeneration including Retinitis Pigmentosa (RP). https://t.co/8vR7QDYm8z
BCD Misdiagnosis 1. This study by Swiss doctors suggested that Bietti's Crystalline Dystrophy #BCD is often misdiagnosed hence underdiagnosed. In this study, only 1 out of 6 BCD patients was correctly diagnosed initially.
https://t.co/UDC2hLFftj
If you're worried about attending your appointment at Moorfields, read through Cilla's story on how she has been reassured by the measures we have taken to make sure our patients and staff stay safe during these times.
In difficult times like the COVID-19 pandemic we are facing now, we should be mindful that it creates unique challenges for people with disabilities. This includes many #RareDiseasePatients. They also need help and should not be neglected. @PatientWorthy
Diva on bietti's crystalline dystrophy (BCD). BCD is a blinding disease. Patients have yellow-white crystals in the retina. It is caused by mutations in the CYP4V2 gene.
Currently, BCD is untreatable. ReflectionBio is developing BCD gene therapy.
https://t.co/AQw8n3YlSW