All individuals with variants in gene RAX2

21 entries on 1 page. Showing entries 1 - 21.
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00100098 PKRD176;61176 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - - - - retinal disease - 1 1 James Hejtmancik
00292098 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00335989 - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00358982 Case71780 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00382139 269 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - CORD11 retinal dystrophy; MIM, 610381 1 1 LOVD
00390039 G1507 PubMed: Liu 2020 - ? - China - - - - - retinal disease - 1 1 LOVD
00413792 - PubMed: Wang-2004 - - - - - - - - - retinal disease - 1 1 LOVD
00413793 - PubMed: Wang-2004 - - - - - - - - - retinal disease macular degeneration and electroretinographic evidence of peripheral retinal involvement 1 1 LOVD
00413794 - PubMed: Wang-2004 - - - - - - - - - retinal disease - 1 1 LOVD
00413795 PatientIV-4 PubMed: Yang-2015 - F - United States - - - - - retinal disease VA: 20/60OD - 20/70OS; attenuated vessels; a few small, yellow, deep macular deposits; and fine granularity of the periphery; development of a waxy discpallor and abull’s eye maculopathy with worsening of vascular attenuation and progressive constriction of the I3e isopter on her kinetic visual field; (more in paper) 1 1 LOVD
00413796 PatientIII-12 PubMed: Yang-2015 - M - United States - - - - - retinal disease VA: 20/20 OD and 20/400 OS (his amblyopic eye); waxy disc pallor, attenuated vessels, macular pigment mottling, and granular pigment changes inferiorly below the arcades; (more in paper) 1 1 LOVD
00413797 Patient III-5 PubMed: Yang-2015 brother of III-4 and III-12 M - United States - - - - - retinal disease At 69 VA: 20/200 eccentrically in both eyes; pigment mottling of the macula, which correlated with worse hypoautofluorescent mottling of the macula and hyperautofluorescence of the perimacula; severe dysfunction of both cone and rod-system responses; (more in paper) 1 1 LOVD
00413798 Patient I PubMed: Van de Sompele-2019 - F - - European - - - - retinal disease VA(OD/OS): 7/10–7/10; Pale optic disc, very narrow retinal vessels, peripheral pigmentation; Foveal island with photoreceptorsparing, loss of outer retinal layers outside; ; Mixed red/green blue/yellow color vision deficiency 1 1 LOVD
00413799 Patient II PubMed: Van de Sompele-2019 - M - - European - - - - retinal disease VA(OD/OS): 8/10–7/10; Pale optic disc, narrowed retinal vasculature, limited intraretinal pigmentation; Foveal island with photoreceptor sparing, loss of outer retinal layers outside; Nondetectable rod and cone response, flat ERG ; Moderate red/green color vision deficiency 1 1 LOVD
00413800 Patient lll PubMed: Van de Sompele-2019 - F - - European - - - - retinal disease VA(OD/OS): 4/10–4/10; Rose-colored optic disc, narrowed retinal vessels, rare bone spicule pigmentation; Preserved retinal layers in fovea, small intraretinal cystic changes perifoveal region; Nondetectable rod response, reduced cone response; Perifoveal ring of high density and reduced autofluorescence in the periphery 1 1 LOVD
00413801 Patient lV PubMed: Van de Sompele-2019 - F - - European - - - - retinal disease VA(OD/OS): NA–6/10; Pale optic disc, narrowed retinal vasculature, bone spicule pigmentation; Preserved outer retinal layers in macula, disruption of ellipsoid band nasally from foveola; Nondetectable rod response, preservation of cone response; Glaucoma and cataract; enucleation of right eye 1 1 LOVD
00413802 Patient V PubMed: Van de Sompele-2019 - F - - European - - - - retinal disease VA(OD/OS): 1/10–7/10; Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation; Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery; ; Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula 2 1 LOVD
00413803 Patient VI PubMed: Van de Sompele-2019 - M - - European - - - - retinal disease VA(OD/OS): 10/10–11/10; Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation; Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery; ; Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula 2 1 LOVD
00447379 STGD-430 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447674 MDS-307 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00450970 073197 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
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