[HTML][HTML] Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish
M Toms, AM Dubis, WS Lim, AR Webster… - Experimental Eye …, 2019 - Elsevier
Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis
(LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular
proliferation in the retina of two affected members of a KCNJ13-related LCA family with a
homozygous c. 458C> T, p.(Thr153Ile) missense mutation. Optical coherence tomography
retinal imaging of the kcnj13 mutant zebrafish (obelix td15 c. 502T> C, p.[Phe168Leu])
revealed a late onset retinal degeneration at 12 months, with retinal thinning and associated …
(LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular
proliferation in the retina of two affected members of a KCNJ13-related LCA family with a
homozygous c. 458C> T, p.(Thr153Ile) missense mutation. Optical coherence tomography
retinal imaging of the kcnj13 mutant zebrafish (obelix td15 c. 502T> C, p.[Phe168Leu])
revealed a late onset retinal degeneration at 12 months, with retinal thinning and associated …