Choroideremia is a rare retinal dystrophy that is inherited in an X-linked pattern: this means that males in families carrying the mutation will be affected and females will usually be asymptomatic carriers (see our “Basic Genetics” section for more information on inheritance patterns). Patients with choroideremia experience progressive nyctalopia (difficulty seeing at night) and gradual loss of their peripheral vision. Central vision, however, remains unaffected until much later on in the disease course (usually around ages 50-60).
Recently a clinical trial showed very promising results for gene therapy in choroideremia, with patients that underwent treatment demonstrating significant improvement in vision! These treatments are still in trial phase, however they show that there is a bright future for patients with retinal dystrophies.
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