Investigating cone photoreceptor development using patient-derived NRL null retinal organoids

Alyssa Kallman, Elizabeth E. Capowski, Jie Wang, Aniruddha M. Kaushik, Alex D. Jansen, Kimberly L. Edwards, Liben Chen, Cynthia A. Berlinicke, M. Joseph Phillips, Eric A. Pierce, Jiang Qian, Tza Huei Wang, David M. Gamm, Donald J. Zack

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Photoreceptor loss is a leading cause of blindness, but mechanisms underlying photoreceptor degeneration are not well understood. Treatment strategies would benefit from improved understanding of gene-expression patterns directing photoreceptor development, as many genes are implicated in both development and degeneration. Neural retina leucine zipper (NRL) is critical for rod photoreceptor genesis and degeneration, with NRL mutations known to cause enhanced S-cone syndrome and retinitis pigmentosa. While murine Nrl loss has been characterized, studies of human NRL can identify important insights for human retinal development and disease. We utilized iPSC organoid models of retinal development to molecularly define developmental alterations in a human model of NRL loss. Consistent with the function of NRL in rod fate specification, human retinal organoids lacking NRL develop S-opsin dominant photoreceptor populations. We report generation of two distinct S-opsin expressing populations in NRL null retinal organoids and identify MEF2C as a candidate regulator of cone development.

Original languageEnglish (US)
Pages (from-to)82
Number of pages1
JournalCommunications biology
Issue number1
StatePublished - Feb 21 2020

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)


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