Journal article
Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia
Ophthalmic surgery, lasers & imaging retina, Vol.50(5), pp.e158-e162
05/01/2019
DOI: 10.3928/23258160-20190503-15
PMID: 31100169
Abstract
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. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e158-e162.].
Details
- Title: Subtitle
- Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia
- Creators
- Katherine J WertBenjamin BakallAlexander G BassukStephen H TsangVinit B Mahajan
- Resource Type
- Journal article
- Publication Details
- Ophthalmic surgery, lasers & imaging retina, Vol.50(5), pp.e158-e162
- Publisher
- United States
- DOI
- 10.3928/23258160-20190503-15
- PMID
- 31100169
- ISSN
- 2325-8160
- eISSN
- 2325-8179
- Grant note
- R01 EY025225 / NEI NIH HHS P30 EY026877 / NEI NIH HHS R01 EY018213 / NEI NIH HHS R01 EY024698 / NEI NIH HHS R01 EY026682 / NEI NIH HHS R01 EY024665 / NEI NIH HHS R21 AG050437 / NIA NIH HHS
- Language
- English
- Date published
- 05/01/2019
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070975302771
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