Unuual Manifetation of X-Linked Retinochii: Clinical Profile and Diagnotic Evaluation Original Reearch Article

Purpoe To decribe the unuual clinical manifetation and diagnotic evaluation of X-linked retinochii (XLR). Deign Propective, obervational cae erie. Method Eight patient with ubnormal viion eeking treatment at a tertiary eye care center were evaluated clinically by optical coherence tomography (OCT) and electroretinography (ERG) in thi propective, noncomparative cae erie. Mutational creening wa performed for the retinochiin gene (R1) by direct deoxyribonucleic acid (DNA) equencing. The primary outcome meaure were the clinical fundu finding and genetic reult. Reult The mean patient age wa 16.4 year (range, two to 33 year). Family hitory wa poitive in even patient. Four demontrated atypical fundu finding of XLR bilaterally. Atypical feature included macular dragging and ditortion (even eye, five patient), macular pigmentary change or carring (five eye; three patient), and bilateral exudative detachment (one patient). One patient had macular dragging and pigmentary change bilaterally. ERG aided diagnoi in five patient: elective B-wave uppreion wa oberved in all. OCT demontrated typical retinal chitic cavitie univerally, including the eye with macular dragging and carring. Genetic tudie confirmed the clinical diagnoi in all patient; two revealed novel mutation. Concluion We identified unuual preentation of XLR with the help of ERG, OCT, family creening, and genetic analyi; OCT eem to be a conitent diagnotic aid acro the clinical pectrum of XLR.