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Background  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). The aim of the study was to identify the molecular basis of choroideremia in five families of Polish origin.    Methods  Six 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.    Results  Five 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.    Conclusions  This study provides the first molecular genetic characteristics of patients with choroideremia from the previously unexplored Polish population.

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment