Insights into retinal development using live imaging in female carriers of choroideremia

Katherine J. Wert, Benjamin Bakall, Alexander G. Bassuk, Stephen H. Tsang, Vinit B. Mahajan

Research output: Contribution to journalArticlepeer-review


Lineage tracing can provide key insights into the development of tissues, such as the retina. Yet it is not possible to manipulate human cells during embryogenesis. The authors observed a distinct phenotype in female carriers of X-linked disorders, in particular, carriers of choroideremia caused by mutations in CHM, encoding Rab escort protein-1. The authors found that X chromosome inactivation provides a method for retinal lineage tracing in human patients. Live imaging of female carriers displays a developmental pattern that is different within the peripheral retina compared with the posterior retina and provides important insights into the development and migration of retinal cells.

Original languageEnglish (US)
Pages (from-to)E158-E162
JournalOphthalmic Surgery Lasers and Imaging Retina
Issue number5
StatePublished - 2019
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology


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