ReflectionBio - By Patients, For Patients

15/03/2021

Inspiring story of an RP patient.
Foundation Fighting Blindness Invincible Vision

Seven years after volunteering as a guide, retired teacher Shari Petersime has taken 1,000s of people through the historic Underground Railroad stop.

28/02/2021

Patients suffering from Bietti’s Crystalline Dystrophy (BCD), a devastating blinding disease, have been reported in more than 100 papers around the world. BCD is often misdiagnosed as Stargardt disease or (RP). Based in San Francisco, Invincible Vision is the only patient organization focused on serving the global BCD community.

BCD Around the World

28/02/2021

ReflectionBio® is proud to partner with patient organization Invincible Vision in the campaign for (BCD). BCD is a rare blinding disease that is often misdiagnosed as Stargardt disease or (RP). With our BY PATIENTS, FOR PATIENTS™ approach, ReflectionBio® is developing for BCD which could save thousands from going blind.

24/02/2021

ReflectionBio is proud to join forces with patient organisation Invincible Vision in this campaign for Bietti's Crystalline Dystrophy (BCD), a rare blinding disease. Invincible Vision

There is new hope for BCD patients. Invincible Vision joins forces with ReflectionBio whose gene therapy research has shown promise.

22/12/2020

Our shiny new site is now live! ReflectionBio’s new website provides more info on Bietti’s Crystalline Dystrophy (BCD), our progress on BCD gene therapy R&D, and our BY PATIENTS, FOR PATIENTS approach as a patient-driven gene therapy company. Check it out.

BCD is an often-misdiagnosed retinal disease

27/10/2020

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.

26/10/2020

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 .

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal ...

18/10/2020

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.

Electroretinograms illustrated different disease stages, however, no eye with normal Rm(p3) and decreased S was found in rods and cones. In the early stages of this disease, decreased numbers of photoreceptors and/or outer segment shortening may be present while phototransduction remains normal. As....

30/06/2020

ReflectionBio is proud to have participated in the “Orphan Drug Development Guidebook” Task Force of the International Rare Diseases Research Consortium (IRDiRC). We were fortunate to have the opportunity to work closely with such a diverse group of rare diseases and orphan drug experts from different parts of the world.

https://irdirc.org/activities/task-forces/orphan-drug-development-guidebook-task-force/

24/06/2020

Who are affected by BCD? Caucasian: This study on Bietti’s Crystalline Dystrophy was conducted by centers in Europe and Canada. Among 18 patients that were diagnosed with retinal dystrophy and presented or had presented with crystalline deposits, 9 patients in this cohort were found to have CYP4V2 mutations. All these patients were of Caucasian origin. Invincible Vision

Bietti's crystalline dystrophy (BCD) is a rare, autosomal recessive retinal degenerative disease associated with mutations in CYP4V2. In this study, we describe the genetic and clinical findings in 19 unrelated BCD patients recruited from five international ...

22/06/2020

Who are affected by BCD? East Asian: As a rare blinding disease, Bietti’s Crystalline Dystrophy (a/k/a Bietti Crystalline Corneoretinal Dystrophy) has been reported to be more common in East Asia, particularly among Chinese and Japanese.

Bietti crystalline corneoretinal dystrophy (BCD, MIM 210370) is a common form of hereditary retinal degeneration in the Chinese population. BCD is caused by CYP4V2 mutations. Understanding the CYP4V2 mutational spectrum and associated phenotypes is of value for clinical practice. In this study, nine...

17/06/2020

BCD Misdiagnosis 2: The clinical symptoms and findings on visual field testing and electrophysiologic studies in Bietti Crystalline Dystrophy are similar to those of other forms of retinal degeneration that fall under the category of Retinitis Pigmentosa (RP) and allied disorders.

Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to....