KDM2B or Not to Be 👀
Are structural eye anomalies part of the KDM2B clinical spectrum?
We report 2 new cases with variants in the CxxC domain and congenital eye anomalies, supporting inclusion of KDM2B in diagnostic panels for
#anophthalmia
#microphthalmia
#coloboma
www.nature.com/articles/s41...
Using retinal organoids, we find that reduced YAP1 function disrupts early retinal progenitor development.
A step toward better variant interpretation in developmental eye disorders.
📄 doi.org/10.1016/j.bb...
👏 Great team effort!
#Coloboma #StemCells #Organoids #Genetics #DevelopmentalBiology
Celebrating #RareDiseaseMonth: Bet you never heard of #CHARGESyndrome!
msipressblog.blogspot.com/2026/02/cele...
#deafblind #coloboma #DisabilityAwareness #CaregiverVoices #caregiving
Green signal at the site of the optic fissure in a chick, indicating expression of a gene called NTN1, which when mutated causes ocular coloboma and sensorineural hearing loss in patients!
I still prefer #zebrafish but I have to say congrats to Dr Joe Rainger and team from @roslininstitute.bsky.social for using the chick to highlight #NTN1 expression in the pioneer cells of the developing optic fissure #coloboma #gene Read more: www.nature.com/articles/s41...
As we know #ZebrafishRock as a biological model. Here are the images of the #netrin knockdown showing a #coloboma and lateral #neuromasts lacking hair cell bodies, hair bundles and kinocilia! @zebrafishrock.bsky.social
Want to read/learn more about ocular #coloboma, #microphthalmia and #anophthalmia, then please visit Gene Vision, an amazing knowledge-sharing resource for patients & professionals: An A-Z of #GeneticEyeDisease #GeneVision gene.vision?s=Ocular+col...
Photo montage showing the eyes of the patient, the left eye shows a smaller corneal diameter. There is a photo of the back of the eyes (the retina) showing a large coloboma defect in the left eye. The last image is one of her hands, there is an arrowhead pointing at the right hand- there is a scar where an extra finger was removed at birth.
We’ve reported the first patient with a mutation in the Netrin-1 #NTN1 gene, causing ocular
#coloboma, sensorineural
hearing loss #deafness and polydactyly (an extra digit). #Zebrafish with the same genetic change have the same eye & ear features!
Read more: onlinelibrary.wiley.com/doi/epdf/10....
Meaning of #coloboma Coloboma: Radical crevice of the iris, the choroid or eyelids... coloboma
Significado de #coloboma Coloboma: Fenda Radical de íris, a coroide ou pálpebras... coloboma
Significado de #coloboma Coloboma: Hendedura radical del iris, de la coroides o de los párpados... coloboma
