Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), an ubiquitously expressed protein involved in intracellular trafficking and prenylation activity. The...

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Bibliographic Details
Main Authors: Andreas Mitsios, Adam M. Dubis, Mariya Moosajee
Format: Article
Language:English
Published: SAGE Publishing 2018-12-01
Series:Therapeutic Advances in Ophthalmology
Online Access:https://doi.org/10.1177/2515841418817490

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