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Article

Choroideremia: molecular mechanisms and therapies.

Trends in molecular medicine - 1 May 2022

Sarkar Hajrah, Moosajee Mariya

Abstract excerpt

Choroideremia (CHM) is a monogenic X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE), and choroid; it is caused by mutations involving the CHM gene. CHM is characterized by night blindness in early childhood, progressing to peripheral visual field loss and eventually to complete blindness from middle age. CHM encodes the ubiquitously expressed Rab escort protein 1...

Topics

Adaptor Proteins, Signal Transducing
Child, Preschool
Choroid
Choroideremia
Humans
Middle Aged
Mutation
Retina
Retinal Pigment Epithelium

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35341685
DOI: 10.1016/j.molmed.2022.02.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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