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Fig. 2

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ZDB-FIG-200124-53

Publication

Toms et al., 2019 - Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish

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Fig. 2

Early clinical features of the KCNJ13 retinopathy.

Ultra-wide field fundus imaging with Optos (Dunfermline, Scotland) of the right and left eye from patient A-2 with a missense mutation (p.Thr153Ile) in KCNJ13 at age 9 (a, b) and at age 15 (c, d). It shows early stage retinal vessel attenuation and progressive retinal pigmentation in a nummular pattern. At age 15, signs of preretinal fibrosis can be seen over the optic disc extending across the arcade. OCT of the left eye at age 9 (e), prior to the onset of vitreous haemorrhage, reveals the presence of retinal lamination but with foveal hypoplasia; this was also seen in patient A-1.

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Acknowledgments

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Reprinted from Experimental Eye Research, 189, Toms, M., Dubis, A.M., Lim, W.S., Webster, A.R., Gorin, M.B., Moosajee, M., Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish, 107852, Copyright (2019) with permission from Elsevier. Full text @ Exp. Eye. Res.