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Updated: Mar 2, 2026

Enrichment of Bruch's Membrane from Human Donor Eyes

Enrichment of Bruch's Membrane from Human Donor Eyes

Published on: November 15, 2015

Choroideremia.

Ioannis S Dimopoulos¹, Alina Radziwon, Chris D St Laurent

¹Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.

Current Opinion in Ophthalmology

|May 19, 2017

Summary

This summary is machine-generated.

Choroideremia (CHM) research reveals new mutations and highlights the retinal pigment epithelium

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Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Choroideremia (CHM) is a rare X-linked genetic disorder affecting vision.
Previous research has focused on defining CHM phenotypes and genotypes.

Purpose of the Study:

To review recent advancements in understanding choroideremia pathogenesis.
To discuss emerging experimental therapeutic strategies for CHM.

Main Methods:

Review of current scientific literature on choroideremia.
Analysis of new findings regarding CHM mutations and patient phenotypes.
Evaluation of ongoing gene therapy trials for CHM.

Main Results:

Identification of novel disease-causing mutations in the CHM promoter region affecting gene expression.
Emphasis on the critical role of the retinal pigment epithelium in CHM's degenerative process.
Assessment of vector-mediated gene replacement therapies in human trials.

Conclusions:

Patient engagement in research has significantly advanced clinical and basic vision science.
Initial safety data from AAV2.REP1 vector injections in humans is promising.
Future studies will determine the efficacy of gene replacement therapy in modifying CHM progression.