Abstract
BackgroundChoroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is caused by mutations in the CHM gene encoding Rab Escort Protein 1 (REP-1). The aim of the study was to identify the molecular basis of choroideremia in five families of Polish origin.MethodsSix male patients from five unrelated families of Polish ethnicity, who were clinically diagnosed with choroideremia, were examined in this study. An ophthalmologic examination performed in all the probands included: best-corrected visual acuity, slit-lamp examination, funduscopy, fluorescein angiography and perimetry. The entire coding region encompassing 15 exons and the flanking intronic sequences of the CHM gene were amplified with PCR and directly sequenced in all the patients.ResultsFive variants in the CHM gene were identified in the five families examined. Two of the variants were new: c.1175dupT and c.83C > G, while three had been previously reported.ConclusionsThis study provides the first molecular genetic characteristics of patients with choroideremia from the previously unexplored Polish population.
Highlights
Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected
Choroideremia (CHM, MIM 303100) is a rare X-linked recessive retinal dystrophy leading to degeneration of the retinal pigment epithelium, photoreceptors and choroid
Choroideremia is caused by mutations in the CHM gene, encoding Rab Escort Protein 1 (REP-1)
Summary
Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is caused by mutations in the CHM gene encoding Rab Escort Protein 1 (REP-1). Choroideremia (CHM, MIM 303100) is a rare X-linked recessive retinal dystrophy leading to degeneration of the retinal pigment epithelium, photoreceptors and choroid. Affected males develop night blindness in late childhood, progressive loss of peripheral visual fields, and loss of central visual acuity in the late stage of the disease. Choroideremia is caused by mutations in the CHM gene, encoding Rab Escort Protein 1 (REP-1).
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