All individuals with variants in gene GRK1

48 entries on 1 page. Showing entries 1 - 48.
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00095924 61015 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - RD Stationary RD 1 1 James Hejtmancik
00095929 61029 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - CSNBO1 - 1 1 James Hejtmancik
00238997 - - - F - - - - - - - ? HP:0007642 (Congenital stationary night blindness) 1 1 IMGAG
00328473 15015158 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - retinal disease congenital stationary night blindness (HP:0007642) 1 1 LOVD
00375413 RP#005 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00376170 - PubMed: Jin 2008 - - - Japan - - - - - retinal disease - 2 1 LOVD
00379628 - PubMed: Godara-2012 - M - - - - - - - retinal disease - 2 1 LOVD
00379629 - PubMed: Godara-2012 - M - - - - - - - retinal disease - 2 1 LOVD
00382309 138 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382788 - PubMed: Azam-2011 - - yes Pakistan pakistani - - - - retinal disease - 1 1 LOVD
00395850 F268 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00413695 ? PubMed: Mucciolo 2018 proband; parents consanguineous; cousin affected with retinitis pigmentosa F yes - Italian - - - - retinal disease night blindness since childhood without other ophthalmological symptoms; best corrected visual acuity: 20/20 both eyes, no refractive errors, anterior segment and intraocular pressure unremarkable; fundus appearance: characteristic golden-yellow reflex throughout the posterior pole to mid-peripheral retina and the Mizuo-Nakamura phenomenon in both eyes, in which the distinctive color of the fundus changed to normal after prolonged dark adaptation; neither vascular attenuation nor degenerative change was seen throughout the retina; Goldmann visual field: within normal limits in each eye; optical coherence tomography:normal in the right eye, left eye normal except for the presence of a small subretinal drusenoid-like deposit at the posterior pole, inside the vascular arcades; peripheral OCT scan, where golden-yellow reflex was present, the OCT image showed a hyper-reflective alteration in correspondence of photoreceptor outer segments; after prolonged dark adaptation, in the absence of the characteristic reflex, normal outer retinal layer OCT segmentation in the same scan; full-field electroretinogram: extinguished scotopic response, a reduction in both a-wave and b-wave amplitudes in the standard combined ERG with a predominant reduction in b-waves (“negative” configuration) and almost normal photopic amplitudes; full-field standard ERG repeated after patching, it was possible to record a scotopic response; fundus autofluoresence: substantially normal in both eyes, in the left eye there was a small hyper-fluorescent dot corresponding to the small subretinal drusenoid-like dep 1 1 LOVD
00413696 case 1 PubMed: Teke 2016 parents first cousins; sibling 1 M yes Turkey Turkish - - - - retinal disease whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati 1 1 LOVD
00413697 case 2 PubMed: Teke 2016 parents first cousins; sibling 2 F yes Turkey Turkish - - - - retinal disease whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati 1 1 LOVD
00413698 case 3 PubMed: Teke 2016 parents first cousins; sibling 3 F yes Turkey Turkish - - - - retinal disease whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati 1 1 LOVD
00413699 case 4 PubMed: Teke 2016 parents first cousins; sibling 4 F yes Turkey Turkish - - - - retinal disease whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati 1 1 LOVD
00413700 ? PubMed: Skorczyk-Werner 2015 maternal grandparents and paternal grandfather of the patient lived in two villages located just 15 km one from another M likely Poland Polish - - - - retinal disease normal visual acuity, normal anterior segment of both eyes and full visual field; fundus examination: a typical golden-brownish discoloration of the peripheral retina disappearing after long dark adaptation with no pigment deposits; full-field electroretinography: reduced amplitudes of both waves under scotopic conditions, photopic conditions: both shape and parameters of the record within the normal limits 1 1 LOVD
00413822 IV-1 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413823 IV-2 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413824 IV-3 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413825 V-9 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413826 V-10 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413827 V-11 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413828 V-1 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413829 V-5 PubMed: Azam 2009 Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community ? - Pakistan Pakistani - - - - retinal disease whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease 1 1 LOVD
00413843 303-002 PubMed: Yamamoto 1997 family #L435 F - - - - - - - retinal disease - 2 1 LOVD
00413844 303-004 PubMed: Yamamoto 1997 family #L435 F - - - - - - - retinal disease - 2 1 LOVD
00413845 303-003 PubMed: Yamamoto 1997 family #F277; parents first cousins F yes - Jewish ancestry - - - - retinal disease - 1 1 LOVD
00413846 303-001 PubMed: Yamamoto 1997 family #3363 M - - Jewish ancestry - - - - retinal disease - 1 1 LOVD
00413847 II:1 PubMed: Yamamoto 1997 dominant family, no other family members have the variant - - - - - - - - retinal disease - 1 1 LOVD
00413848 II:1 PubMed: Yamamoto 1997 recessive family, two affected and two unaffected family members have the variant, no other variants detected - - - - - - - - retinal disease - 1 1 LOVD
00413849 III:6 PubMed: Yamamoto 1997 dominant family, no other family members have the variant - - - - - - - - retinal disease - 1 1 LOVD
00413850 III:2 PubMed: Yamamoto 1997 dominant family, only two unaffected family members have the variant - - - - - - - - retinal disease - 1 1 LOVD
00413851 II:4 PubMed: Yamamoto 1997 dominant family, one affected and one unaffected family member have the variant - - - - - - - - retinal disease - 1 1 LOVD
00413852 II:2 PubMed: Yamamoto 1997 recessive family, one affected family members have the variant, no other variants detected - - - - - - - - retinal disease - 1 1 LOVD
00413853 III:5 PubMed: Yamamoto 1997 dominant family, no other family members have the variant - - - - - - - - retinal disease - 1 1 LOVD
00413854 II:2 PubMed: Yamamoto 1997 recessive family, one affected and one unaffected family member have the variant, no other variants detected - - - - - - - - retinal disease - 1 1 LOVD
00413860 IV:2 PubMed: Zhang 2005 Family 61029 M yes - Pakistani - - - - retinal disease best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: slow recovery to nearly normal amplitude after 4 h in the dark but not after only 30 min; cone ERG amplitude essentially normal 1 1 LOVD
00413861 IV:3 PubMed: Zhang 2005 Family 61029 F yes - Pakistani - - - - retinal disease best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: minimal or no rod function even after 4 h dark-adaptation, cone 30 Hz flicker response amplitudes: normal 1 1 LOVD
00413862 IV:5 PubMed: Zhang 2005 Family 61029 F yes - Pakistani - - - - retinal disease best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: minimal or no rod function even after 4 h dark-adaptation, cone 30 Hz flicker response amplitudes: normal 1 1 LOVD
00413881 III:2 PubMed: Hayashi 2007 consanguineous Japanese family (JU#0008), parents first cousins; brother of III:3 M yes Japan Japanese - - - - retinal disease best corrected visual acuity right/left eye: 1.5/1.5; color vision: normal; cone electroretinography results: reduced 1 1 LOVD
00413882 III:3 PubMed: Hayashi 2007 consanguineous Japanese family (JU#0008), parents first cousins; sister of III:2 F yes Japan Japanese - - - - retinal disease best corrected visual acuity right/left eye: 1.5/1.5; color vision: normal; cone electroretinography results: reduced 1 1 LOVD
00413904 Patient 1 PubMed: Oishi 2007 - F no Japan Japanese - - - - retinal disease - 1 1 LOVD
00413905 Patient 2 PubMed: Oishi 2007 - F no Japan Japanese - - - - retinal disease - 1 1 LOVD
00420561 F268 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00429776 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
00447189 MISC-136 PubMed: Weisschuh 2024 patient F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447547 CSNB-128 PubMed: Weisschuh 2024 family, 3 affected M - Germany - - - - - ? - 1 3 Johan den Dunnen
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