Article

Retinal network dysfunction precedes structural degeneration in severe <i>GUCA1A</i> cone-rod dystrophy

2026-06-29

Abstract excerpt

Autosomal dominant cone-rod dystrophy caused by GUCA1A mutations is generally viewed as a disorder of phototransduction, yet the mechanisms linking photoreceptor dysfunction to progressive vision loss remain unclear. Here, using a knock-in mouse carrying the severe GCAP1 p.(E111V) variant, we show that retinal network dysfunction precedes structural degeneration. Mutant mice exhibited delayed rod photoresponses,...

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Literature Corpus work: bb022b2b-e38b-5ae8-84fa-b351778624c2
DOI: 10.64898/2026.06.23.734025

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