Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

ABSTRACT:

Introduction

Choroideremia is an X-linked inherited retinal degeneration resulting from mutations in the CHM gene, encoding Rab escort protein-1 (REP1), a protein regulating intracellular vesicular transport. Loss-of-function mutations in CHM lead to progressive loss of retinal pigment epithelium (RPE) with photoreceptor and choriocapillaris degeneration, leading to progressive visual field constriction and loss of visual acuity. Three hundred and fifty-four unique mutations have been reported in CHM. While gene augmentation remains an ideal therapeutic option for choroideremia, other potential future clinical strategies may exist.

Areas covered

The authors examine the pathophysiology and genetic basis of choroideremia. They summarize the status of ongoi

SUBMITTER: Han RC 

PROVIDER: S-EPMC7610829 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature