Gene Therapy for Color Blindness.
Ontology highlight
ABSTRACT:
SUBMITTER: Hassall MM
PROVIDER: S-EPMC5733843 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Gene Therapy for Color Blindness.
Hassall Mark M MM Barnard Alun R AR MacLaren Robert E RE
The Yale journal of biology and medicine 20171219 4
Achromatopsia is a rare congenital cause of vision loss due to isolated cone photoreceptor dysfunction. The most common underlying genetic mutations are autosomal recessive changes in <i>CNGA3</i>, <i>CNGB3</i>, <i>GNAT2</i>, <i>PDE6H</i>, <i>PDE6C</i>, or <i>ATF6</i>. Animal models of <i>Cnga3</i>, <i>Cngb3</i>, and <i>Gnat2</i> have been rescued using AAV gene therapy; showing partial restoration of cone electrophysiology and integration of this new photopic vision in reflexive and behavioral ...[more]
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