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CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio Valentina, Esposito Gabriella, De Falco Francesca, Boccia Rosa, Fioretti Tiziana, Colucci Raffaella et al.
Invest Ophthalmol Vis SciApr 20190 citationsObservational Study
This study found choroideremia progresses slowly, but CHM/REP1 gene mutations causing absent mRNA lead to earlier, more severe vision and field loss, guiding prognosis and potential gene therapy.