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Article

Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy.

Ophthalmic genetics - 1 Aug 2020

Ahn Jeeyun, Chiang John, Gorin Michael B

Abstract excerpt

BACKGROUND: Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common IRD and is characterized by the primary involvement of the rod photoreceptors. Over 80 causal genes have been identified so far giving clinicians insight into the pathogenesis. SLC4A7 encodes a sodium...

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PMID: 32594822
DOI: 10.1080/13816810.2020.1783691

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