All individuals with variants in gene KIZ

22 entries on 1 page. Showing entries 1 - 22.
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00016848 - PubMed: El Shamieh 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib M yes - Africa-N;Jewish-Sephardic - - - - CORD RCD diagnosed in late teens; 35y-night blindness followed by changes in midperipheral visual fields/undetectable responses in full-field electroretinogram by approximately; 50y-overweight, complained of moderate hearing difficulties; best-corrected visual acuity 20/800 (R), 20/640 (L); kinetic visual-field test revealed decreased central retinal sensitivity, bilateral peripheral-field constriction; typical RCD fundus changeswith additional macular thinning 1 1 Marianne Vos (LOVD-team)
00017031 - PubMed: El Shamieh 2014 2-generation family, 1 affected, unaffected parents M yes Spain Spanish - - - - CORD BCVA 20/20 both eyes; annular scotoma in the midperiphery; preservation of the peripheral isopter; Typical RCD fundus changes with macular preservation. 1 1 Marianne Vos (LOVD-team)
00017032 - PubMed: El Shamieh 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? France Italian - - - - CORD Well tolerated congenital ichthyosis; BCVA was 20/40 right eye; 20/32 left; A binocular kinetic visual field was reduced to the central 10 with bitemporal islands of perception peripherally. Typical RCD Fundus changes with relative macular preservation 2 1 Marianne Vos (LOVD-team)
00155490 - Sharon, submitted - F no Israel Turkey;Jewish - - - - retinal disease - 1 1 Dror Sharon
00309212 - PubMed: Sharon 2019 6 IRD families - - Israel - - - - - retinal disease - 1 6 Global Variome, with Curator vacancy
00327517 FamPatII1/3 PubMed: Gustafson 2017 2 sisters F - United States Jewish-Ashkenazi - - - - retinal disease see paper; ... 1 2 Johan den Dunnen
00380225 IR_GS_0046 - - M - Korea, South (Republic) - - - - - RP HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0001483, HP:0000007, HP:0000510 1 1 Jinu Han
00386172 RPN-284 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00387053 79 PubMed: Jauregui 2020 - M - (United States) white - - - - retinal disease - 1 1 LOVD
00387054 80 PubMed: Jauregui 2020 - M - (United States) white - - - - retinal disease - 1 1 LOVD
00387055 81 PubMed: Jauregui 2020 - M - (United States) white - - - - retinal disease - 1 1 LOVD
00389976 1260 PubMed: Weisschuh 2020 Filing key number: 1054, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00391388 56 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease diagnosis unsure 1 1 LOVD
00409853 III:2 PubMed: Zhao 2019 - F - United States Ashkenazi Jewish - - - Intraretinal cystoid changes were managed with dorzolamide 2% ophthalmic solution 1 drop twice daily initially, which was then increased to three times daily when the cysts worsened on subsequent follow-ups retinal disease nyctalopia with difficulty navigating in dimly lit environments since teenage years; in early twenties, central vision loss followed by progressive peripheral field loss and light-sensitivity; medical history: nonspecific dysautonomia, with episodes of lightheadedness, tachycardia, and diaphoresis, for which evaluations with cardiology and neurology were unrevealing of an underlying etiology; older brother diagnosed with rod-cone dystrophy 3y; deceased paternal grandfather night-blind; best-corrected visual acuity: 20/30 both eyes with moderate myopic astigmatism; normal color vision tested using the Ishihara plates; anterior segment: normal; ophthalmoscopy: macular pigment mottling, mild peripapillary atrophy and hypopigmentation vessels that appeared to be of normal caliber, peripheral retina unremarkable; fundus autofluorescence: bull's eye-like ring of hyper-autofluorescence and patchy granular hypoautofluorescence of the mid-periphery; optical coherence tomography of the fovea: intraretinal cystoid chans with mild epiretinal membranes in both eyes, outer retinal loss of the ellipsoid zone and external limiting membrane with preserved subfoveal islands; Goldmann visual field testing: less than 10 degrees of central field using a V4e target, and an inferior arcuate island of peripheral field remaining in both eyes; electroretinogram: reduction in both scotopic and photopic responses 1 1 LOVD
00409855 A-II:2 PubMed: Lin 2020 - M - - - - - - - retinal disease 57y: best corrected visual acuity (first visit) right, left eye: 20/40, 20/50; 62y: best corrected visual acuity (last visit) right, left eye: 20/30, 20/40; ellipsoid zone line length (um) right, left eye: 2013: 655, 703; 2015: 596, 625; 2016: 579, 615; 2017: 563, 613; 2018: 554, 580 1 1 LOVD
00409856 B-II:1 PubMed: Lin 2020 - M - - - - - - - retinal disease 57y: best corrected visual acuity (first visit) right, left eye: 20/30, 20/80; 60y: best corrected visual acuity (last visit) right, left eye: 20/60, 20/400; ellipsoid zone line length (um) right, left eye: 2015: 1332, 1452; 2016: 921, 1362; 2017: 606, 1143; 2018: 528, 1023 1 1 LOVD
00409857 C-II:1 PubMed: Lin 2020 - M - - - - - - - retinal disease 21y: best corrected visual acuity (first visit) right, left eye: 20/30, 20/25; 21y: best corrected visual acuity (last visit) right, left eye: not available 1 1 LOVD
00409858 D-II:5 PubMed: Lin 2020 - M - - - - - - - retinal disease 35y: best corrected visual acuity (first visit) right, left eye: 20/150, 20/150; 49y: best corrected visual acuity (last visit) right, left eye: hand movement, hand movemen; ellipsoid zone line length (um) right, left eye: 2011: 705, 615; 2018: 378, 393; 2019: 331, 319 1 1 LOVD
00430059 - PubMed: Panneman 2023 - M - - - - - - - RP - 1 1 Daan Panneman
00436431 2847955 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 1 1 Rocio Villafuerte-de la Cruz
00436443 2695000 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 1 1 Rocio Villafuerte-de la Cruz
00436444 2701134 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510 1 1 Rocio Villafuerte-de la Cruz
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