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Clinical and genetic findings in a Chinese cohort with choroideremia



Choroideremia (CHM) is an X-linked chorioretinal dystrophy caused by variants in the CHM gene. The aim of this study was to report the clinical and genetic features of a cohort of affected males with CHM and establish the relationship between best correct visual acuity (BCVA) and age.


Twenty-seven patients from 24 unrelated families underwent detailed ophthalmic examinations and comprehensive molecular genetic analysis. We combined the 27 patients in our own cohort with 68 Chinese patients from six previously reported studies to determine a transition age for BCVA rapid decline in 95 patients.


Twenty-three causal (9 novel) CHM variants were identified in the 27 patients, who had a mean age of 30.5 ± 17.4 years and a mean BCVA (LogMAR) of 0.61 ± 0.79. Patients at different disease stages showed different extents of retinal pigment epithelium (RPE) and choroid abnormalities. Central retinal optical coherence tomography (OCT) scanning revealed defects in the ellipsoid zone and RPE in all patients and outer retinal tubulations in 75%. The 95 patients had a mean age of 33.27 ± 16.27 years and an average (LogMAR) of 0.72 ± 0.82. The BCVA did not decline rapidly before age 25, but decreased at a mean rate of 0.037logMAR/year after that age.


Our results indicated Chinese patients with CHM variants have a younger transition age for rapid BCVA decline than previously reported for other ethnic groups. Central retinal OCT scanning can identify different abnormalities in the retinal structures, and these might be used as other parameters for monitoring disease progression in patients with CHM.

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Fig. 1: Colored fundus (CF) and fundus autofluorescence (FAF) photographs of patients with CHM at different stages.
Fig. 2: Best-corrected visual acuity (BCVA) as a function of age in the 95 better-seeing eyes of 95 patients with CHM.
Fig. 3: Central retinal OCT images of patients with CHM at the different stages.


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This study was supported by the National Key R&D Program of China (2017YFA0104103) and the High-level Talents training plan of the health system of Beijing (No. 2013-2-021). The funding organizations had no role in designing or conducting this research.

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YS participated in study design, data collection and analysis, and manuscript preparation. CC contributed in collecting clinical data of patients, performing molecular experiments analysis, YX, TS, and XK participated in data collection and analysis. YL participated in the study design and revised the manuscript critically for important intellectual content. All authors approved the final version.

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Correspondence to Yang Li.

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Song, Y., Chen, C., Xie, Y. et al. Clinical and genetic findings in a Chinese cohort with choroideremia. Eye 37, 459–466 (2023).

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