Brittle Cornea Syndrome (BCS) is a rare progressive genetic disorder (of EDS family)
Let's share knowledge, experience, R&D papers, etc to help each other.
Resilience is turning limitations into American records. 🏊♀️✨
Hear Team USA swimmer Grace Nuhfer's incredible story of overcoming rare health challenges on Kristi Capel's latest podcast:
https://t.co/b3MvdhK954
#brittlecorneasyndrome#bcs#prdm5#eds#connectivetissue
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature https://t.co/la5dbfdmmb
@nerdymedzebra Hello mam, i wish to see more content on BCS, esp #PRDM5 gene. If you have/ know/ observe any info related to Brittle cornea syndrome, however trivial, pls post back. I am trying to bring more facts or experiences with BCS to the limelight.
@TheEDSociety Pls publish information on BCS more frequently. As a parent, I'm eager to know/ learn more information to help my child. Pls point me to the relevant researchers or groups who can help.
.@EdinburghUni researchers want to better understand what goes wrong in eye conditions where the cornea thins, to ultimately reduce the need for corneal transplants. Dr Veronique Vitart's work focuses on keratoconus and Brittle Cornea Syndrome (BCS). https://t.co/LJEdekk7Vb
#BCS affects 1/1,000,000 people. Caused by changes in #PRDM5 or #ZNF469 genes, it is a recessive condition. Both copies of the gene inherited from parents by affected individuals carry faulty genetic instructions (DNA) so PRDM5 or ZNF469 do not work correctly. #RareDiseaseDay *CS
Our research in @vvitart2's lab @mrc_hgu to determine when, why & how the cornea becomes extremely thin in eye conditions #Keratoconus & Brittle Cornea Syndrome #BCS was featured in @fightforsightUK's latest e-news. We're grateful to our funders for supporting this research!
.@EdinburghUni researchers want to better understand what goes wrong in eye conditions where the cornea thins, to ultimately reduce the need for corneal transplants. Dr Veronique Vitart's work focuses on keratoconus and Brittle Cornea Syndrome (BCS). https://t.co/LJEdekBJjL