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Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options

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0 Published in 2018 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2017.1418389

Abstract: ABSTRACT Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development… read more here.

Keywords: clinical features; genetics; molecular genetics; features molecular ... See more keywords