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Article

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

HGG advances - 12 Oct 2023

Sanjurjo-Soriano Carla, Jimenez-Medina Carla, Erkilic Nejla, Cappellino Luisina, Lefevre Arnaud, Nagel-Wolfrum Kerstin, Wolfrum Uwe, Van Wijk Erwin, Roux Anne-Françoise, Meunier Isabelle, Kalatzis Vasiliki

Abstract excerpt

There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. Further complexifying diagnosis, different variants in individual RP genes can also alter the clinical phenotype. USH2A is the most prevalent gene for autosomal-recessive RP and...

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Identifiers

PMID: 37654703
DOI: 10.1016/j.xhgg.2023.100229
PMCID: PMC10465966

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USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.PMID 37654703Read ↗

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