All individuals with variants in gene RGR

79 entries on 1 page. Showing entries 1 - 79.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00001802 - - - - - (United States) - - - - - RP - 1 1 Feng Wang
00033095 - - - M - - - - - - - retinal disease - 1 1 Kornelia Neveling
00033127 - - - F - - - - - - - retinal disease - 1 1 Kornelia Neveling
00233178 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233179 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233180 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233181 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00233182 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 208 Yoshito Koyanagi
00233771 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 9 Yoshito Koyanagi
00308540 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308541 - PubMed: Holtan 2020 7 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 7 Global Variome, with Curator vacancy
00308542 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00318042 PKMR396 PubMed: Riazuddin 2017 family, 2 affected - yes Pakistan Punjabi - - - - ID moderate to severe ID, aggressive, speech delay, night blindness, impaired conductance, teeth pointed inward, mild nystagmus. 1 affected: mild ID, epilepsy (from 6 months to 4 years age, not now), aggressive. All affected have night blindness, aggressive. IV:1 and IV:8 mild ID while IV:4 moderate to severe ID. IV:1 has myopia, teeth pointed inward, impaired conductance and mild deaf IV:8 epilepsy (from 6 months to 4 years age, not now), febrile seizures, violent shaking, hyperthermia induced seizures and IV:4 has speech delay, mild nystagmus, myopia, teeth pointed inward, impaired conductance with pain in ears and delayed CMS. 1 2 Johan den Dunnen
00326696 - PubMed: Mandal 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00328042 G001408 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00333385 RD2–01 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00358979 Case71808 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00363350 HM723 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00372717 RP267 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372748 RP369 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00375435 RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00376514 - PubMed: Singh 2009 - - yes - Indian - - - - retinal disease - 1 1 LOVD
00376515 - PubMed: Singh 2009 - - yes - Indian - - - - retinal disease - 1 1 LOVD
00376783 49 PubMed: Wang 2014 - F - United States - - - - - retinal disease - 1 1 LOVD
00376796 63 PubMed: Wang 2014 - F - United States - - - - - retinal disease - 1 1 LOVD
00379392 - PubMed: Collin-2011 - M - Netherlands - - - - - retinal disease - 1 1 LOVD
00380186 II:1 PubMed: Ezquerra-Inchausti 2018 Family RP174, II:1 ? no Spain - - - - - retinal disease - 1 1 LOVD
00381694 - PubMed: Eisenberger-2013 - F no Germany - - - - - retinal disease - 1 1 LOVD
00382857 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00382858 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00382859 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00382860 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00382861 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease moderate disease; night blindness 31y; marked atrophy of the peripheral retina 1 1 LOVD
00382862 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease severe condition; nystagmus and night blindness (4y); severely constricted peripheral visual field, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and numerous pigment deposits on the retina including in the macular area (30y) 2 1 LOVD
00382863 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00382864 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00382865 - PubMed: Ksantini-2010 - - - France - - - - - retinal disease - 1 1 LOVD
00384776 - PubMed: González-del Pozo-2011 - - - - Spanish - - - - retinal disease - 1 1 LOVD
00385041 19664 PubMed: Xu 2020 - ? no China - - - - - retinal disease photophobia, nystagmus, best corrected visual acuity right/left eye: NA 1 1 LOVD
00386205 RPN-325 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00388500 13013491 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00389428 712 PubMed: Weisschuh 2020 Filing key number: 266, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389429 713 PubMed: Weisschuh 2020 Filing key number: 266, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390362 G001408 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00390756 - PubMed: Booij-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00390776 - PubMed: Booij-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00390822 - PubMed: Arno-2016 - M no - Albanian - - - - retinal disease Macular Artrophy 1 1 LOVD
00390823 - PubMed: Arno-2016 - F no - Albanian - - - - retinal disease Macular Artrophy 1 1 LOVD
00390824 - PubMed: Arno-2016 - M no - Albanian - - - - retinal disease Macular Artrophy 1 1 LOVD
00390827 - PubMed: Arno-2016 - M no - Albanian - - - - retinal disease Macular Artrophy 1 1 LOVD
00391006 - PubMed: Maggi_2021 - M - Switzerland - - - - - retinal disease - 2 1 LOVD
00395621 ? PubMed: Mermeklieva 2021 - F - Bulgaria Balkan - - - - retinal disease best corrected visual acuity 0.3, 20/40 Snellen equivalent, both eyes. Slightly paler optic discs, moderately attenuated retinal vessels, few pigment deposits peripherally in both eyes and near the optic disc in the right eye, yellowish colored macula were observed in the fundus. fundus autofluorescence: generalized thinning of RPE with punctate salt and pepper-like appearance peripherally and hyperfluorescence in the center of the macula in both eyes. Optical coherence tomography: abnormal foveolar contour with retinal thinning of macular areas in both eyes, centrally and more peripherally located scotomas found on visual field testing, full-field electroretinography: severely affected photopic response- reduced amplitudes and prolonged latencies, scotopic response also pathological although milder. 1 1 LOVD
00410325 WVU: III-6 PubMed: Ba-Abbad 2018 Family WVU, individual III-6 F - - - - - - - retinal disease presentation: visual field defects; best corrected visual acuity right, left eye: 20/30; 20/25; -1.00+0.75 x 175, -0.50 DS; visual field: enlarged blind spots, both eyes; fundus features: bilateral peripapillary atrophy; fundus autofluorescence: reduced peripapillary autofluorescence, extending not availablesally & temporally, relative foveal sparing, reticular pattern of increased autofluorescence in the posterior pole, speckled autofluorescence inferiorly; optical coherence tomography: relative sparing of the fovea, interlaminar bridge not availablesal to the fovea, peripapillary loss of outer retinal layers, thin choroid; electroretinogram: moderate-to-severe reduction of scotopic and photopic responses 1 1 LOVD
00410326 WVU: III-8 PubMed: Ba-Abbad 2018 Family WVU, individual III-8 M - - - - - - - retinal disease presentation: reduced visual acuity; best corrected visual acuity right, left eye: 20/25; 20/60; +0.75+1.00 x 145, -0.50+1.75 x 175; visual field: enlarged blind spot & large nasal scotomata, both eyes; fundus features: extensive peripapillary atrophy, relative foveal sparing. at age 77: bilateral chorioretinal atrophy in the posterior pole; fundus autofluorescence: reduced autofluorescence with islands of preserved autofluorescence in the posterior pole; optical coherence tomography: 77y: interlaminar bridge temporal to the fovea; extensive loss of the outer retina, thin choroid; electroretinogram: moderate reduction of scotopic bright flash response; mildly subnormal photopic b-wave amplitude 1 1 LOVD
00410327 WVU: IV-2 PubMed: Ba-Abbad 2018 Family WVU, individual IV-2 F - - - - - - - retinal disease presentation: asymptomatic; best corrected visual acuity right, left eye: 20/20; 20/20; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular pattern of increased autofluorescence, sparing of the posterior pole; optical coherence tomography: preservation of the foveal structure, peripapillary loss of outer retinal layers; electroretinogram: not available 1 1 LOVD
00410328 WVU: IV-5 PubMed: Ba-Abbad 2018 Family WVU, individual IV-5 M - - - - - - - retinal disease presentation: asymptomatic; peripapillary atrophy; best corrected visual acuity right, left eye: 20/20; 20/20; +0.75+0.75 x 132, LE:+1.00+0.50 x 37; visual field: enlarged blind spots, both eyes; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular pattern of increased autofluorescence and patches of reduced autofluorescence not availablesally; optical coherence tomography: preservation of the foveal structure, deep peripapillary excavation & loss of outer retinal layers; electroretinogram: normal scotopic & photopic responses 1 1 LOVD
00410329 WVU: IV-6 PubMed: Ba-Abbad 2018 Family WVU, individual IV-6 M - - - - - - - retinal disease presentation: difficulty driving at night; best corrected visual acuity right, left eye: 20/25; 20/25; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: not available; optical coherence tomography: not available; electroretinogram: not available 1 1 LOVD
00410330 MEH-GC4177:IV-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual IV-1 F - - - - - - - retinal disease presentation: reduced visual acuity, difficulty seeing under dim light, & visual field defects; best corrected visual acuity right, left eye: 20/1000; 20/80; visual field: not available; fundus features: bilateral chorioretinal atrophy, no retinal visual acuityscular attenuation, patches of intraretinal pigmentation in the temporal periphery ; fundus autofluorescence: widespread reduced autofluorescence with islands of preserved autofluorescence in the posterior pole; optical coherence tomography: extensive loss of the outer retina at the posterior pole; outer retinal tubulation; electroretinogram: not available 1 1 LOVD
00410331 MEH-GC4177:V-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual V-1 F - - - - - - - retinal disease presentation: progressive visual field constriction ; best corrected visual acuity right, left eye: 20/20; 20/30; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular autofluorescence pattern, patches of reduced autofluorescence not availablesally, relative sparing of the parafoveal region; optical coherence tomography: mild disruption of the ellipsoid zone & the inter-digitation zone; focal thickening of the rpe band not availablesal to the fovea; electroretinogram: not available 1 1 LOVD
00410332 MEH-GC4177:V-2 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual V-2 M - - - - - - - retinal disease presentation: asymptomatic; best corrected visual acuity right, left eye: 20/20; 20/20; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular pattern of increased autofluorescence not availablesally; optical coherence tomography: marked attenuation of the outer nuclear layer & ellipsoid zone not availablesal to the fovea; outer retinal tabulation; electroretinogram: normal scotopic & photopic responses 1 1 LOVD
00410333 MEH-GC4177:VI-1 PubMed: Ba-Abbad 2018 Family MEH-GC4177, individual VI-1 F - - - - - - - retinal disease presentation: asymptomatic; best corrected visual acuity right, left eye: 20/15 20/20; visual field: normal; fundus features: bilateral peripapillary atrophy & diffuse retinal pigment alteration ; fundus autofluorescence: reduced peripapillary autofluorescence, widespread salt-and-pepper hypo-autofluorescence anterior to the visual acuityscular arcades; optical coherence tomography: preservation of the foveal structure, peripapillary loss outer nuclear layer & ellipsoid zone; outer retinal tubulation; electroretinogram: normal scotopic & photopic responses 1 1 LOVD
00410335 060-012 PubMed: Morimura 1999 family B763, individual 060-012 M - - - - - - - retinal disease retinal degeneration similar to patients with Ser66Arg; 65y: poor visual acuity (right 20/40, left 20/160); severely reduced electroretinograms (?1.5 uV, normal ?50 uV) that were nevertheless larger than those of patients up to 30 years younger with the Ser66Arg mutation; normal levels of serum vitamin A 1 1 LOVD
00410336 (II:2) PubMed: Morimura 1999 family B763, individual II:2 F - - - - - - - retinal disease retinal degeneration similar to patients with Ser66Arg; 65y: poor visual acuity (right 20/40, left 20/160); severely reduced electroretinograms (?1.5 uV, normal ?50 uV) that were nevertheless larger than those of patients up to 30 years younger with the Ser66Arg mutation; normal levels of serum vitamin A 1 1 LOVD
00410337 (II:3) PubMed: Morimura 1999 family B763, individual II:3 M - - - - - - - retinal disease retinal degeneration similar to patients with Ser66Arg; 65y: poor visual acuity (right 20/40, left 20/160); severely reduced electroretinograms (?1.5 uV, normal ?50 uV) that were nevertheless larger than those of patients up to 30 years younger with the Ser66Arg mutation; normal levels of serum vitamin A 1 1 LOVD
00410338 003-186 (II:7) PubMed: Morimura 1999 family E174, individual 003-186 II:7 F - - - - - - - retinal disease visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity; full-field electroretinograms: reduced, reflecting widespread loss of photoreceptor function; 35y: no rod response to single white flashes and computer-averaged cone electroretinograms to 30-Hz white flicker flashes were 0.21�0.35 uV (normal ?50 uV); normal levels of serum vitamin A 1 1 LOVD
00410339 218-360 (II:6) PubMed: Morimura 1999 family E174, individual 218-360 II:6 F - - - - - - - retinal disease visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity 1 1 LOVD
00410340 (II:5) PubMed: Morimura 1999 family E174, individual II:5 M - - - - - - - retinal disease visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity 1 1 LOVD
00410341 (II:3) PubMed: Morimura 1999 family E174, individual II:3 F - - - - - - - retinal disease visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity; full-field electroretinograms: reduced, reflecting widespread loss of photoreceptor function; near-normal levels of serum vitamin A; 1 1 LOVD
00410342 (II:2) PubMed: Morimura 1999 family E174, individual II:2 F - - - - - - - retinal disease visual acuity of 20/200 or worse, severely constricted visual fields, attenuated retinal vessels, diffuse depigmentation of the retinal pigment epithelium and intraretinal pigment deposits in the periphery; the depigmented patches involved the central macula in siblings with severely decreased acuity 1 1 LOVD
00410343 HM723I1 PubMed: Li 2016 affected F - - - - - - - retinal disease best corrected visual acuity right, left eye: 0.2,0.2; refraction right, left eye (diopters): -12.00,-13.00; axial length (mm): 27.57,28.18; fundus: myopic 1 1 LOVD
00410344 HM723II4 PubMed: Li 2016 affected - no mutation F - - - - - - - retinal disease best corrected visual acuity right, left eye: 0.5,0.5; refraction right, left eye (diopters): -7.00,-6.50; axial length (mm): 26.28,26.09; fundus: normal 1 1 LOVD
00410345 HM723II4 PubMed: Li 2016 unaffected - mutant M - - - - - - - retinal disease best corrected visual acuity right, left eye: 1.2,1.0; refraction right, left eye (diopters): -1.00,-0.50; axial length (mm): 23.18,23.24; fundus: normal 1 1 LOVD
00410346 HM824II2 PubMed: Li 2016 affected M - - - - - - - retinal disease best corrected visual acuity right, left eye: 0.7,0.1; refraction right, left eye (diopters): -15.50,-18.00; axial length (mm): 31.52,not available - retinal detachment; fundus: myopic 1 1 LOVD
00410347 HM824I1 PubMed: Li 2016 unaffected - mutant M - - - - - - - retinal disease best corrected visual acuity right, left eye: 1.0,1.0; refraction right, left eye (diopters): -2.50,1.00; axial length (mm): 23.92,23.86; fundus: normal 1 1 LOVD
00446996 ARRP-447 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00447012 ARRP-478 PubMed: Weisschuh 2024 family, 3 affected F - Germany - - - - - ? - 1 3 Johan den Dunnen
00447270 SRP-1128 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00447712 SRP-1219 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00469288 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.