This literature review considers clinical characteristics (pendular nystagmus, poor visual acuity, lack of colour vision and marked photophobia), genetics (autosomal recessive disease, with CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6 gene mutations), diagnostic options (OCT and fundus auto fluorescence), and treatment options (e.g. gene therapy) and future perspectives in relation to achromatopsia.
Assessing and treating achromatopsia
Reviewed by Fiona Rowe
Assessment and treatment options for achromatopsia: a review of the literature.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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