Atypical choroideremia presenting with early‐onset macular atrophy
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DOI: 10.1111/aos.14025
Abstract: Choroideremia is an X‐linked recessive retinal degeneration predominantly affecting hemizygous males. It is caused by mutations in the CHM gene that encodes the Rab escort protein‐1. Characteristic features include early nyctalopia followed by progressive constriction… read more here.
Keywords: atypical choroideremia; presenting early; choroideremia; early onset ... See more keywords