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Since its first description in 1872, there has been a lively academic debate about the natural history of choroideremia. Due to the low prevalence of choroideremia, interest in this discussion has been limited to subspecialists. However, the current development of novel, potentially disease-modifying therapies has sparked the attention of a larger professional audience. This review summarises the literature around the natural history of the disease and illustrates its key aspects using a simple two-stage model. Apart from a comprehensive discussion of ubiquitous clinical modalities, the manuscript reviews scientifically relevant questions, such as intra-individual symmetry and the utility of novel endpoints for use in clinical studies. Furthermore, it examines the limitations of past and current studies and develops recommendations for further observational trials.

Original publication

DOI

10.1055/a-0841-3417

Type

Journal article

Journal

Klin Monbl Augenheilkd

Publication Date

03/2019

Volume

236

Pages

236 - 243

Keywords

Choroideremia, Humans