Abstract
BackgroundTo report the clinical and genetic findings from seven Chinese patients with choroideremia.MethodsFive hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) was performed on samples from all patients. Detailed clinical characteristics of the patients with choroideremia identified in this study were assessed using multimodal imaging.ResultsSeven patients with choroideremia were identified, and six novel variants in CHM (c.1960 T > C p.Ter654Gln, c.1257del p.Ile420*fs1, c.1103_1121delATGGCAACACTCCATTTTT p.Tyr368Cysfs35, c.1414-2A > T, and c.1213C > T p.Gln405Ter, c.117-1G > A) were revealed. All variants were deleterious mutations: two were frameshifts, two were nonsense mutations, two were splicing mutations, and one was a readthrough mutation. The clinical phenotypes of these patients were markedly heterogeneous, and they shared many common clinical features with RP, including night blindness, constriction of the visual field and gradually reduced visual acuity. However, patients with choroideremia showed pigment hypertrophy and clumping, and chorioretinal atrophy, and a majority of patients with choroideremia presented with retinal tubulations in the outer layer of the retina.ConclusionsWe provide a detailed description of the genotypes and phenotypes of seven patients with choroideremia who were accurately diagnosed using NGS. These findings provide a better understanding of the genetics and phenotypes of choroideremia.
Highlights
To report the clinical and genetic findings from seven Chinese patients with choroideremia
Choroideremia (OMIM 303100) is a rare, X-linked, recessive dystrophy that leads to the progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors in the retina, and the choriocapillaris
Choroideremia is often misdiagnosed as retinitis pigmentosa (RP) or other retinal dystrophies, such as Usher syndrome (OMIM 276900), gyrate atrophy (OMIM 258870) and Leber congenital amaurosis [10]
Summary
To report the clinical and genetic findings from seven Chinese patients with choroideremia. Choroideremia (OMIM 303100) is a rare, X-linked, recessive dystrophy that leads to the progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors in the retina, and the choriocapillaris (CC) [1, 2]. Female carriers are affected with varying degrees of severity, but they are generally asymptomatic [5, 6]. Affected male patients suffer from nyctalopia, the progressive loss of the peripheral visual field and a reduction in the central visual field. Choroideremia is often misdiagnosed as retinitis pigmentosa (RP) or other retinal dystrophies, such as Usher syndrome (OMIM 276900), gyrate atrophy (OMIM 258870) and Leber congenital amaurosis [10]
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