All individuals with variants in gene LRAT

84 entries on 1 page. Showing entries 1 - 84.
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00100068 61076 PubMed: Li 2017 - F no Pakistan Pakistani - - - - retinal disease - 1 1 James Hejtmancik
00100080 61120 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - retinal disease - 1 1 James Hejtmancik
00170851 IRD4.0_#21 Manuscript under review (González-del Pozo et al., 2018) - F yes Spain - - - - - LCA - 1 1 María González-del Pozo
00232606 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232607 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00308613 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308614 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00325423 1274 PubMed: Zenteno 2020 - - - Mexico - - - - - retinal disease Leber congenital amaurosis 1 1 Johan den Dunnen
00325487 3580 PubMed: Zenteno 2020 single patient - - Mexico - - - - - retinal disease retinitis pigmentosa 1 1 Johan den Dunnen
00332271 Fam19PatFBP_55 PubMed: Porto 2017 proband - - Brazil - - - - - retinal disease - 1 1 LOVD
00359080 12004275 PubMed: Ellingford 2016 patient - - - - - - - - retinal disease - 1 1 LOVD
00363699 12DG1182 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease non-syndromic 1 1 LOVD
00373837 Rp1 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - retinal disease see paper; ... 2 1 LOVD
00375332 K1153 PubMed: Oishi 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00376765 27 PubMed: Wang 2014 - F - United States - - - - - retinal disease - 1 1 LOVD
00376772 36 PubMed: Wang 2014 - M - United States - - - - - retinal disease - 1 1 LOVD
00376784 50 PubMed: Wang 2014 - M - United States - - - - - retinal disease - 1 1 LOVD
00376855 Fam2 PubMed: Coppieters 2014 see paper - yes Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00377540 JU1039 PubMed: Hosono 2018 proband, family JIKEI-145 F no Japan Asian - - - - retinal disease see paper 2 1 LOVD
00377541 JU1040 PubMed: Hosono 2018 sister of JU1039, family JIKEI-145 F no Japan Asian - - - - retinal disease see paper 2 1 LOVD
00379379 - PubMed: Collin-2011 - F - Netherlands - - - - - retinal disease - 1 1 LOVD
00379519 - PubMed: Littink-2012 - M - Netherlands - - - - - retinal disease Normal optic disc, slightly attenuated vasculature, absent foveolar reflex, irregular pigmentation with many small white dots in mid-periphery. 1 1 LOVD
00379520 - PubMed: Littink-2012 - M - Netherlands - - - - - retinal disease Pale optic disc, normal vasculature, small white dots and granular aspect in mid-periphery. 1 1 LOVD
00379521 - PubMed: Littink-2012 - M - Netherlands - - - - - retinal disease Normal optic disc, mildly attenuated vasculature, normal macula, in periphery white dots and granular appearance. 1 1 LOVD
00379522 - PubMed: Littink-2012 - M - Netherlands - - - - - retinal disease Normal optic disc, mildly attenuated vasculature, granular aspect of the macula, in periphery few white dots, granular appearance. 1 1 LOVD
00380129 11DG0632 PubMed: Patel 2018 - - yes Saudi Arabia - - - - - retinal disease - 1 1 LOVD
00380133 12DG0405 PubMed: Patel 2018 - - likely Saudi Arabia - - - - - retinal disease - 1 1 LOVD
00381191 - PubMed: Wang-2013 - - no - - - - - - retinal disease - 1 1 Julia Lopez
00381212 - PubMed: Wang-2013 novel LOF mutations - no - - - - - - retinal disease - 1 1 Julia Lopez
00381643 - PubMed: Eisenberger-2013 - M yes Saudi Arabia - - - - - retinal disease - 1 1 LOVD
00381644 - PubMed: Eisenberger-2013 - F yes Turkey - - - - - retinal disease - 1 1 LOVD
00382560 422 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382636 D (II:1) PubMed: Gonzalez del Pozo 2018 - ? yes Spain - - - - - retinal disease additional photophobia; consang. 1 1 LOVD
00382799 - PubMed: Song-2011 - F - - - - - - - retinal disease - 1 1 LOVD
00383067 - PubMed: Anasagasti-2013 - - - Spain - - - - - retinal disease - 1 1 LOVD
00383923 RP-0479 PubMed: Martin Merida 2019 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00384192 066852 PubMed: Tayebi 2019 - - - Iran - - - - - retinal disease - 1 1 LOVD
00384193 066853 PubMed: Tayebi 2019 - - - Iran - - - - - retinal disease - 1 1 LOVD
00389509 793 PubMed: Weisschuh 2020 Filing key number: 312, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389848 1132 PubMed: Weisschuh 2020 Filing key number: 780, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00391659 55 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: 20/200;20/100 1 1 LOVD
00391660 56 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: 20/80:20/80 2 1 LOVD
00391661 57 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: 20/1600;20/1600 1 1 LOVD
00391662 58 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: 20/100;20/60 1 1 LOVD
00391663 59 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease - 1 1 LOVD
00391664 60 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: 20/320;20/320 1 1 LOVD
00391729 116 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease - 1 1 LOVD
00396209 - PubMed: SkorczykWerner 2020 - F - - Polish - - - - retinal disease 1 month: nystagmus the oculo-digital sign 1 1 LOVD
00406595 293_1 PubMed: Preising 2007 family 293, individual 1 ? - - - - - - - retinal disease - 2 1 LOVD
00409869 1 PubMed: Borman 2012 - M yes - South-east Asian - - - - retinal disease nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: 0.22/0.90; electroretinography (pattern): some bilateral macular preservation, full-field: undetectable 1 1 LOVD
00409870 2 PubMed: Borman 2012 - F yes - white - - - - retinal disease nyctalopia, visual field constriction, reduced vision, no photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: 0.66/hand movement; electroretinography (pattern): severe bilateral macular dysfunction, full-field: undetectable 1 1 LOVD
00409871 3 PubMed: Borman 2012 - M no - white - - - - retinal disease nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: hand movement/1.80; electroretinography (pattern): severe bilateral macular dysfunction, full-field: severe photoreceptor dysfunction 1 1 LOVD
00409872 4 PubMed: Borman 2012 - F no - Caribbean - - - - retinal disease nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision; best corrected visual acuity right/left eye: 0.80/0.50; electroretinography (pattern): not available, full-field: not available 1 1 LOVD
00409873 arRP186 PubMed: Thompson 2001 - F yes - - - - - - retinal disease visual field of less than 5 degrees 1 1 LOVD
00409874 arRP824 PubMed: Thompson 2001 - F yes - - - - - - retinal disease visual field restricted to tiny central islands; funduscopy: optic disc pallor, attenuated retinal arterioles, peripheral RPE atrophy and perimacular retinal surface wrinkling but little bone-spicule pigment 1 1 LOVD
00409875 2910 PubMed: Thompson 2001 - M no - - - - - - retinal disease no electroretinogram responses at age 15; currently, no central vision 1 1 LOVD
00409876 1 PubMed: Senechal 2006 - F - - - - - - - retinal disease mild form of typical retinitis pigmentosa; peripheral visual field loss >60y 1 1 LOVD
00409877 2 PubMed: Senechal 2006 - M yes - - - - - - retinal disease did not follow objects at age 2.5 months, but saw lights; had no nystagmus, deeply night blindness; progressively improved so that he recognized various objects (cars, forks) and could move by himself in a bright environment at age 21 months; hyperopaia with refraction right/left eye: +4.25 (-0.50; 30deg) / +4.50 (-0.75; 165deg); subnormal binocular visual acuity (2.5/10) at the baby vision test; fundus: normal-looking maculae with good reflexes and normal optic disks; no pigment deposits either in the posterior pole or in periphery, retinal vessels were slightly narrowed, no depigmentation spots or flecks; electroretinogram: flat for all types of stimulation 1 1 LOVD
00409878 ? PubMed: Bussieres 2007 cell line investigation (HEK cells) - - - - - - - - retinal disease - 1 1 LOVD
00409879 110 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) retinal disease baseline visual acuity (ETDRS Letter Score) right/left eye: 70.5/59.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 8.9/10.5; baseline Goldmann visual field, retinal area (mm2) right/left eye: 42/17; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:0.68/3.31 1 1 LOVD
00409880 111 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) retinal disease baseline visual acuity (ETDRS Letter Score) right/left eye: 0/1.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/16; baseline Goldmann visual field, retinal area (mm2) right/left eye: 288/288; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:no/no 1 1 LOVD
00409881 117 PubMed: Scholl 2015 M - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) retinal disease baseline visual acuity (ETDRS Letter Score) right/left eye: 37/39.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 14.2/11.8; baseline Goldmann visual field, retinal area (mm2) right/left eye: 263/251; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:0.52/0.42 1 1 LOVD
00409884 202 PubMed: Scholl 2015 F - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) retinal disease baseline visual acuity (ETDRS Letter Score) right/left eye: 60.5/40; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/9.5; baseline Goldmann visual field, retinal area (mm2) right/left eye: 34/25; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:no/no 1 1 LOVD
00409886 302 PubMed: Scholl 2015 F - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) retinal disease baseline visual acuity (ETDRS Letter Score) right/left eye: 53/27.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 145/120; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no 1 1 LOVD
00409897 fam61254pat7 PubMed: Chen 2018 family 61254 M yes Pakistan - - - - - retinal disease - 1 1 LOVD
00409898 fam61254pat8 PubMed: Chen 2018 family 61254 M yes Pakistan - - - - - retinal disease waxy pale optic discs, attenuation of retinal arteries, bone spicule-like pigment deposits in the midperiphery of the retina, and macular changes 1 1 LOVD
00409899 fam61254pat32 PubMed: Chen 2018 family 61254 M yes Pakistan - - - - - retinal disease attenuation of retinal arteries; extinguished electroretinogram 1 1 LOVD
00409900 fam61254pat33 PubMed: Chen 2018 family 61254 F yes Pakistan - - - - - retinal disease - 1 1 LOVD
00409901 fam61254pat42 PubMed: Chen 2018 family 61254 F yes Pakistan - - - - - retinal disease - 1 1 LOVD
00409902 fam61254pat43 PubMed: Chen 2018 family 61254 F yes Pakistan - - - - - retinal disease - 1 1 LOVD
00409929 I PubMed: Talib 2019 sibling of II M - - Dutch - - - - retinal disease nyctalopia in 1st decade of life; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: counting fingers; macula: profound chorioretinal and retinal pigment epithelium atrophy, sharply demarcated. pigment clumping.; age at visual field testing: 23y - central horizontal diameter V-4e (deg): 1.5/2; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: III-4e; seeing retinal area V4e (mm2): not available/679.1; pattern: absolute central scotoma. peripheral wedge of vision. 50y - central horizontal diameter V-4e (deg): 0/0; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: I-4e; seeing retinal area V4e (mm2): 213.6/234.6; pattern: large absolute central scotoma with small island of foveal sparing. midperipheral remaining ring.; change (mm2/year):-16.8 1 1 LOVD
00409930 II PubMed: Talib 2019 sibling of I M - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 1st decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: counting fingers; macula: sheen, retinal pigment epithelium alterations; age at visual field testing: 29y - central horizontal diameter V-4e (deg): 73/63; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 768.3/725.7; pattern: relative central scotoma (���i4e). absolute paracentral s 1 1 LOVD
00409931 III PubMed: Talib 2019 - F - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 3rd decade of life; best corrected visual acuity: 20/200; macula: retinal and retinal pigment epithelium atrophy; age at visual field testing: 30y - central horizontal diameter V-4e (deg): not available/; central horizontal diameter I-4e (deg): not available/; minimal isopter size observed on Goldmann kinetic perimetry: not available; seeing retinal area V4e (mm2): not available/; pattern: supra-temporal absolute scotoma; relative central scotoma 1 1 LOVD
00409932 IV PubMed: Talib 2019 - M - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: counting fingers; macula: retinal pigment epithelium alterations, choroidal atrophy 1 1 LOVD
00409933 V PubMed: Talib 2019 - F - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 2nd decade of life; visual acuity loss: 2nd/3rd decade of life; best corrected visual acuity: counting fingers; macula: sheen, retinal pigment epithelium atrophic alterations 1 1 LOVD
00409934 VI PubMed: Talib 2019 - M - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: 20/200; macula: chorioretinal and retinal pigment epithelium atrophy spanning posterior pole and beyond vascular arcade 1 1 LOVD
00409935 VII PubMed: Talib 2019 - F - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: before 4th decade of life; best corrected visual acuity: 20/100; macula: difficult to assess due to synchysis scintillans. small pigmentations; age at visual field testing: 37y - central horizontal diameter V-4e (deg): 145/142; central horizontal diameter I-4e (deg): 48-10/53; minimal isopter size observed on Goldmann kinetic perimetry: I-2e; seeing retinal area V4e (mm2): 782.8/765.7; change (mm2/year):-15.4; pattern: midperipheral absolute scotomas, encroaching towards fovea. relative concentric constriction.52y - central horizontal diameter V-4e (deg): 72/66; central horizontal diameter I-4e (deg): 39-10/55; minimal isopter size observed on Goldmann kinetic perimetry: I-2e; seeing retinal area V4e (mm2): 543.9/543.5; pattern: relative paracentral scotomas. relative concentric constriction, mainly superior hemifield. 1 1 LOVD
00409936 VIII PubMed: Talib 2019 - M - - Dutch - - - - retinal disease nyctalopia in 1st decade of life; visual field loss: before 5th decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/25; macula: sheen, retinal pigment epithelium atrophy around spared fovea; age at visual field testing: 48y - central horizontal diameter V-4e (deg): 153/98; central horizontal diameter I-4e (deg): 44650/11; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 707.1/691.9; pattern: absolute midperipheral and paracentral scotomas. 1 1 LOVD
00409937 IX PubMed: Talib 2019 - M - - Dutch - - - - retinal disease nyctalopia in 1st decade of life; visual field loss: 1st decade of life; visual acuity loss: ; best corrected visual acuity: 20/20; macula: sheen, normal pigmentation, white dots; age at visual field testing: 11y - central horizontal diameter V-4e (deg): not available (only a description of the visual field in the medical record)/; central horizontal diameter I-4e (deg): not available (only a description of the visual field in the medical record)/; minimal isopter size observed on Goldmann kinetic perimetry: not available (only a description of the visual field in the medical record); seeing retinal area V4e (mm2): not available (only a description of the visual field in the medical record)/; pattern: multiple relative scotomas in periphery. 1 1 LOVD
00409938 X PubMed: Talib 2019 - F - - Dutch - - - - retinal disease nyctalopia in 1st decade of life; visual field loss: 2nd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: 20/20; macula: no sheen, subtle white dots on a pale retina, subtle granular retinal pigment epithelium changes.; age at visual field testing: 40y - central horizontal diameter V-4e (deg): not available (only a description of the visual field in the medical record)/; central horizontal diameter I-4e (deg): not available (only a description of the visual field in the medical record)/; minimal isopter size observed on Goldmann kinetic perimetry: not available (only a description of the visual field in the medical record); seeing retinal area V4e (mm2): not available (only a description of the visual field in the medical record)/; pattern: absolute concentric constriction, 20deg from fovea 1 1 LOVD
00409939 XI PubMed: Talib 2019 - F - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: 5th decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/40; macula: atrophic retinal pigment epithelium alterations; age at visual field testing: 38y - central horizontal diameter V-4e (deg): 140/150; central horizontal diameter I-4e (deg): 75/77; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 718.9/736.2; pattern: absolute concentric constriction. 39y - central horizontal diameter V-4e (deg): 130/140; central horizontal diameter I-4e (deg): 73/70; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 700.6/716.2; pattern: absolute concentric constriction. ; change (mm2/year):-13.4 1 1 LOVD
00409940 XII PubMed: Talib 2019 - F - - Dutch - - - - retinal disease nyctalopia in infancy; visual field loss: not available; visual acuity loss: not available; best corrected visual acuity: 20/16; macula: retinal pigment epithelium alterations; age at visual field testing: 54y - central horizontal diameter V-4e (deg)NAd/; central horizontal diameter I-4e (deg): NAd/; minimal isopter size observed on Goldmann kinetic perimetry: NAd; seeing retinal area V4e (mm2): NAd/ 1 1 LOVD
00409941 XIII PubMed: Talib 2019 - M - - Turkish-Belgian - - - - retinal disease nyctalopia in infancy; visual field loss: 2nd decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/66; macula: central macula with normal appearance, white dots in the superior posterior pole. ; age at visual field testing: 15y - central horizontal diameter V-4e (deg): 116/130; central horizontal diameter I-4e (deg): 4/2; minimal isopter size observed on Goldmann kinetic perimetry: I4e; seeing retinal area V4e (mm2): 452.2/512; pattern: absolute concentric constriction.16y - central horizontal diameter V-4e (deg): 116/128; central horizontal diameter I-4e (deg): 0/2; minimal isopter size observed on Goldmann kinetic perimetry: II4e/ I4e; seeing retinal area V4e (mm2): 455.6/507.2; pattern: increased concentric constriction.17y - central horizontal diameter V-4e (deg): 134/123; central horizontal diameter I-4e (deg): 0/3; minimal isopter size observed on Goldmann kinetic perimetry: II4e/ I4e; seeing retinal area V4e (mm2): 562.5/530; pattern: absolute concentric constriction.; change (mm2/year):41.9 1 1 LOVD
00447555 LCA-156 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
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