Title | Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | Wert, Katherine J., Bakall Benjamin, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. |
Journal | Ophthalmic Surg Lasers Imaging Retina |
Volume | 50 |
Issue | 5 |
Pagination | e158-e162 |
Date Published | 2019 May 01 |
ISSN | 2325-8179 |
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.]. |
DOI | 10.3928/23258160-20190503-15 |
Alternate Journal | Ophthalmic Surg Lasers Imaging Retina |
PubMed ID | 31100169 |