Abstract

Aim: The aim of this case report was to report the clinical and genetic characteristics of choroideremia patient and a family member carrier. Case report: A comprehensive ophthalmologic examination, BCVA (best corrected visual acuity), fundus examination and photography, optical coherence tomography (OCT), OCT–angiography (OCTA), perimetry was conducted in choroideremia patient and a family member carrier. Clinical findings of choroidermia patient presented as significant atrophy of the choroid and retinal pigment epithelium (RPE) with the exception of a portion of preserved tissue in the macula. OCT showed foveal thickening with parafovoal RPE and fotoreceptor (FR) atrophy. OCTA revealed loss of choriocapillaris vasculature. Clinical diagnosis of CHM mutation was confirmed by multiplex ligation-dependent probe amplification assay (MLPA), followed by sequencing which revealed pathogen variance (c.1584_1587delTGTT). Clinical findings of carrier: small peripheral zones of atrophy and hyper pigmentation, without any symptoms or major visible changes on OCT or OCTA. Conclusion: Following new frontiers in gene therapy it is of curtail importance to diagnose patients correctly as well as confirm clinical diagnosis by genetic testing.

Key words:  choroideremia, choroideremia carrier, CHM, genetic testing.