All individuals with variants in gene EYS

1529 entries on 16 pages. Showing entries 1 - 100.
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00000135 - PubMed: Marrakchi 2011 5-generation family, 3 affecteds (M) M yes Tunisia - - - - - PSORS - 1 3 Johan den Dunnen
00000210 - PubMed: Abu-Safieh-2013 - - - (Saudi Arabia) - - - - - CORD - 1 1 Leen Abu Safieh
00001962 - - - M ? Germany white - - - - SLOS 2-3 toe syndactyly 1 1 Division of Human Genetics, Innsbruck
00016605 - - - - - - - - - - - - - 1 1 Christopher Watson
00033096 - PubMed: Neveling 2012 - M no - - - - - - retinal disease - 2 1 Kornelia Neveling
00033109 - PubMed: Neveling 2012 - F no - - - - - - retinal disease - 1 1 Kornelia Neveling
00033132 - PubMed: Neveling 2012 - M no - - - - - - retinal disease retinal degeneration, severe, early onset (EOSRD) 1 1 Kornelia Neveling
00033157 - PubMed: Neveling 2012 - F no - - - - - - retinal disease extraocular phenotype; cardiomyopathy, hypertrophic 1 1 Kornelia Neveling
00033349 - PubMed: Abu-Safieh-2013 - - - - - - - - - retinal disease - 2 1 Leen Abu Safieh
00038358 23591405-Pat658 PubMed: Glöckle 2014 - ? ? - ? - - - - retinal disease ? 3 1 Frans Cremers
00095925 61016 PubMed: Li 2017 - M ? Pakistan Pakistani - - - - RPar Progressive RP 1 1 James Hejtmancik
00100104 61192 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - retinal disease - 1 1 James Hejtmancik
00104565 28585349-FamPat2 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - ID born at term, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay10m-crawling, 18m walking; 18m myoclonic epilepsy; 4y brain MRI normal, ECG generalized spike/(poly)spike waves discharges; 7y difficulty speech/language/walking, no pyramidal and cerebellar syndromes; 12y never seizure-free (1 every 10d; 19y minor facial dysmorphy, dental anomalies, strabismus, down turned corners mouth 1 1 Karine Poirier
00105016 68ORG1 PubMed: de Castro-Miró 2016 - F no Argentina - - - - - retinal disease - 2 1 Marta de Castro-Miró
00143834 - PubMed: Abd El-Aziz 2008 - F no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143835 - PubMed: Abd El-Aziz 2008 - F no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143836 - PubMed: Abd El-Aziz 2008 - M yes Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143837 - PubMed: Abd El-Aziz 2008 - M yes Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143838 - PubMed: Abd El-Aziz 2008 - F yes Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143839 - PubMed: Abd El-Aziz 2008 - F no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143840 - PubMed: Abd El-Aziz 2008 - M no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143841 - PubMed: Abd El-Aziz 2008 - M no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143842 - PubMed: Abd El-Aziz 2008 - M no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143843 - PubMed: Abd El-Aziz 2008 - M no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143844 - PubMed: Collin 2008 - M no Netherlands Dutch - - - - retinal disease characteristic RP abnormalities, including night blindness as the initial symptom, retinal bone-spicule pigmentations and attenuated retinal vessels, constriction of the visual fields, and a nonrecordable ERG or ERG responses in a rod-cone pattern; posterior subcapsular cataract 1 1 Rob W.J. Collin
00143845 - PubMed: Collin 2008 - F no Netherlands Dutch - - - - retinal disease photoreceptor dystrophy, but the cones were more severly affected than were the rods. This is also reflected by the central scotomas on the kinetic visual field. Fundus abnormalities included central abnormalities at the level of the RPE and moderate attenuation of the retinal vessels 1 1 Rob W.J. Collin
00143846 - PubMed: Collin 2008 - M no Netherlands Dutch - - - - retinal disease characteristic RP abnormalities, including night blindness as the initial symptom, retinal bone-spicule pigmentations and attenuated retinal vessels, constriction of the visual fields, and a nonrecordable ERG or ERG responses in a rod-cone pattern 1 1 Rob W.J. Collin
00143847 - PubMed: Collin 2008 - F no Netherlands Dutch - - - - retinal disease characteristic RP abnormalities, including night blindness as the initial symptom, retinal bone-spicule pigmentations and attenuated retinal vessels, constriction of the visual fields, and a nonrecordable ERG or ERG responses in a rod-cone pattern 1 1 Rob W.J. Collin
00143848 - PubMed: Collin 2008 - F no Netherlands Dutch - - - - retinal disease characteristic RP abnormalities, including night blindness as the initial symptom, retinal bone-spicule pigmentations and attenuated retinal vessels, constriction of the visual fields, and a nonrecordable ERG or ERG responses in a rod-cone pattern 1 1 Rob W.J. Collin
00143849 - PubMed: Collin 2008 - F no Netherlands Dutch - - - - retinal disease characteristic RP abnormalities, including night blindness as the initial symptom, retinal bone-spicule pigmentations and attenuated retinal vessels, constriction of the visual fields, and a nonrecordable ERG or ERG responses in a rod-cone pattern; posterior subcapsular cataract 1 1 Rob W.J. Collin
00143850 - PubMed: Jinda 2014 - F no Thailand Thai - - - - retinal disease At age 49: Progressive vision loss; poor night vision; poor color discrimination; BCVA R 6/24 L 6/18; visual evoked potential R/L normal; fundus Pale optic disc; moderate bone spicules in mid periphery 1 1 Rob W.J. Collin
00143851 - PubMed: Jinda 2014 - M no Thailand Thai - - - - retinal disease At age 51: Poor night vision; BCVA R 6/36 L 6/24; visual evoked potential R/L moderately decreased amplitude; fundus Pink optic disc; RPE changes in midperiphery without macular involvement; no bone spicules 1 1 Rob W.J. Collin
00143852 MOL0788PatII3 PubMed: Kimchi 2018, PubMed: Beryozkin 2014 family, 2 affected, index patient M yes Lithuania Jewish - - - - retinal disease At age 62: visual acuity HM; vitreous fibrosis and bone spicules pigments in the retina 1 2 Rob W.J. Collin
00143853 MOL0788PatII2 PubMed: Beryozkin 2014, PubMed: Kimchi 2018 sister of MOL0788PatII3 F yes Lithuania Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143854 - PubMed: Abd El-Aziz 2010 - ? ? - white - - - - retinal disease - 1 1 Rob W.J. Collin
00143855 - PubMed: Audo 2010 index patient F yes Senegal Senegalese descent (Dakar) - - - - retinal disease At age 28: visual acuity: OD 20/25, OS 20/32; No pale optic disc, narrowed retinal vessels, little changes in the periphery with white dots and few bone spicules, relatively preserved posterior pole; relatively preserved foveal lamination; patchy loss of AF outside the vascular arcade, perifoveal ring of AF 1 1 Rob W.J. Collin
00143856 - PubMed: Audo 2010 - M yes Senegal Senegalese descent (Dakar) - - - - retinal disease - 1 1 Rob W.J. Collin
00143857 - PubMed: Audo 2010 - M ? - Jewish-Sephardic - - - - retinal disease At age 48: visual acuity: OD HM, OS HM; Some degree of bilateral posterior subcapsular cataract, pale optic discs, optic disc drusen; Narrowed blood vessels, perifoveal atrophy; RPE changes and bone spicules in periphery; Foveal thining, perifoveal loss of AF heretogeneous loss of AF outside and within the arcade 1 1 Rob W.J. Collin
00143858 - PubMed: Audo 2010 - M yes Egypt Egyptian - - - - retinal disease At age 42: visual acuity: OD 20/25, OS 20/20; Normal optic disc and blood vessels, RPE atrophy and bone spicules predominant in the inferior part of the retina resembling sector RP; Preserved foveal lamination; Loss of autofluorescnec in the inferior part of the retina and within the temporal side outlined by an area of increased autofluorescence 1 1 Rob W.J. Collin
00143859 - PubMed: Audo 2010 - F yes Turkey - - - - - retinal disease At age 25: visual acuity: OD 20/32, OS 20/32; Normal optic disc and blood vessels; some RPE changes in periphery; Relative preservation of foveal lamination; Loss of AF outside the vascular arcade with perifoveal ring of increase AF 1 1 Rob W.J. Collin
00143860 - PubMed: Audo 2010 sibling of CIC00157 M ? Turkey - - - - - retinal disease - 1 1 Rob W.J. Collin
00143861 - PubMed: Bandah-Rozenfeld 2010 index patient F yes Morocco Jewish - - - - retinal disease Refraction: NA; visual acuity: NA; ffERG: R&L Extinguished 2 1 Rob W.J. Collin
00143862 - PubMed: Bandah-Rozenfeld 2010 - F yes Morocco Jewish - - - - retinal disease Refraction: R -4.25/-1.00 x 35°, L -6.00/-0.75 x 175°; visual acuity: R&L CF 2m; ffERG: R&L Extinguished 2 1 Rob W.J. Collin
00143863 - PubMed: Bandah-Rozenfeld 2010 - M no Morocco Jewish - - - - retinal disease Refraction: NA; visual acuity: NA; ffERG: R Extinguished L not performed 2 1 Rob W.J. Collin
00143864 - PubMed: Bandah-Rozenfeld 2010 index patient F no Morocco Jewish - - - - retinal disease Refraction: NA; visual acuity: R/L 0.7; ffERG: R not performed L Extinguished 2 1 Rob W.J. Collin
00143865 - PubMed: Bandah-Rozenfeld 2010 index patient M yes Palestine muslim - - - - retinal disease Refraction: R -2.00/-0.25 x 35°, L -2.00/-1.00 x 140°; visual acuity: R 0.5 L 0.8; ffERG: R&L Extinguished 1 1 Rob W.J. Collin
00143866 - PubMed: Bandah-Rozenfeld 2010 index patient F yes Morocco Jewish - - - - retinal disease Refraction: NA; visual acuity: R 0.1 L 0.25; ffERG: R&L Extinguished 2 1 Rob W.J. Collin
00143867 - PubMed: Bandah-Rozenfeld 2010 index patient M no Iraq Jewish - - - - retinal disease Refraction: NA; visual acuity: R 0.5 L 0.6; ffERG: R 27; 53/97; 8, 36, L 29; 31/81; 7, 36 (rod response b-wave amplitude (normal, 200 V); mixed cone–rod a-/b-wave (normal a-wave, 90 V; normal b-wave, 400 V); cone response (normal, 60 V), implicit time (normal, 33 ms)) 1 1 Rob W.J. Collin
00143868 - PubMed: Bandah-Rozenfeld 2010 index patient M yes Morocco Jewish - - - - retinal disease Refraction: NA; visual acuity: R 0.15 L 0.15; ffERG: NP 2 1 Rob W.J. Collin
00143869 - PubMed: Bandah-Rozenfeld 2010 index patient M yes Morocco Jewish - - - - retinal disease Refraction: R -0.75/-3.00 x 40°, L -2.50/-1.50 x 50°; visual acuity: R CF 2.5m L CF 1m; ffERG: NP 2 1 Rob W.J. Collin
00143870 - PubMed: Bandah-Rozenfeld 2010 index patient F yes Morocco Jewish - - - - retinal disease - 2 1 Rob W.J. Collin
00143871 - PubMed: Littink 2010 index patient M no Canada - - - - - retinal disease Age 63; visual acuity R=2/400, L=2/400; Optic disc pallor, narrow vessels, and peripapillary atrophy. Extensive and diffuse choroidal show and choroidal sclerosis, with RPE loss and bone spicule pigmentation. 1 1 Rob W.J. Collin
00143872 - PubMed: Littink 2010 - F no Canada - - - - - retinal disease - 1 1 Rob W.J. Collin
00143873 - PubMed: Littink 2010 index patient M no Netherlands Dutch - - - - retinal disease Age 25; visual acuity R=20/20, L=20/25; Pink optic disc, moderately attenuated vessels, cystoid maculopathy, in (mid)periphery RPE atrophy with some bone-spicules and some drusen-like deposits. 1 1 Rob W.J. Collin
00143874 - PubMed: Littink 2010 index patient M no Netherlands Dutch - - - - retinal disease Age 42; visual acuity R=20/25, L=20/25; Waxy pallor of the optic disc, attenuated retinal vasculature, generalized chorioretinal atrophy, mild bone spicule pigmentation clustered in periphery 1 1 Rob W.J. Collin
00143875 - PubMed: Littink 2010 index patient M no Netherlands Dutch - - - - retinal disease Age 39; visual acuity R=20/50, L=20/40; pink, waxy optic disc, moderately attenuated retinal vessels, and generalized chorioretinal atrophy with macular sparing, bone spicules in periphery 1 1 Rob W.J. Collin
00143876 - PubMed: Littink 2010 - F no Netherlands Dutch - - - - retinal disease Age 36; visual acuity R=20/32, L=20/32; Waxy optic disc with temporal pallor, attenuated retinal vasculature, extensive chorioretinal atrophy few bone spicules in periphery. 1 1 Rob W.J. Collin
00143877 - PubMed: Huang 2010 index patient M yes China Chinese - - - - retinal disease night blindness at the age of 15 years, and progressively lost his visual acuity to 20/400 at approximately the age of 35-40 years; attenuation of the retinal arteries, waxen color of discs, and bone-spicule pigmentation in the peripheral-mid retina; extinguished or very low amplitude ERG in both eyes 1 1 Rob W.J. Collin
00143878 - PubMed: Huang 2010 sibling of II2 F yes China Chinese - - - - retinal disease Night blindness appeared late in the second decade of life, low visual acuity between 20/400 and hand movement, and a flat ERG 1 1 Rob W.J. Collin
00143879 - PubMed: Huang 2010 sibling of II2 F yes China Chinese - - - - retinal disease Night blindness appeared late in the second decade of life, low visual acuity between 20/400 and hand movement, and a flat ERG 1 1 Rob W.J. Collin
00143880 - PubMed: Barragán 2010 - F yes Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143881 - PubMed: Barragán 2010 - M no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143882 - PubMed: Barragán 2010 - F no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143883 - PubMed: Barragán 2010 - F no Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143884 - PubMed: Barragán 2010 - F yes Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143885 - PubMed: Barragán 2010 - M yes Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143886 - PubMed: Khan 2010 - F no Pakistan Pakistani - - - - retinal disease night blindness that started early in the second decade of life 1 1 Rob W.J. Collin
00143887 - PubMed: Khan 2010 - F yes Pakistan Pakistani - - - - retinal disease night blindness that started early in the second decade of life; age 40 bone spicule pigmentations at the periphery (arrows), and attenuated retinal vessels (arrowheads); VA RE (OD)= 20/630 LE (OS)=20/630, at time of diagnosis 20/400 both eyes 1 1 Rob W.J. Collin
00143888 - PubMed: Khan 2010 proband M yes Pakistan Pakistani - - - - retinal disease night blindness that started early in the second decade of life; age 38 bone spicule pigmentations at the periphery (arrows), and attenuated retinal vessels (arrowheads); at age 42 VA RE (OD)= 20/125 LE (OS)=20/400, at time of diagnosis 20/125 both eyes 1 1 Rob W.J. Collin
00143889 - PubMed: Khan 2010 - F yes Pakistan Pakistani - - - - retinal disease night blindness that started early in the second decade of life 1 1 Rob W.J. Collin
00143890 - PubMed: Khan 2010 - M yes Pakistan Pakistani - - - - retinal disease night blindness that started early in the second decade of life 1 1 Rob W.J. Collin
00143891 - PubMed: Khan 2010 - M yes Pakistan Pakistani - - - - retinal disease night blindness that started early in the second decade of life 1 1 Rob W.J. Collin
00143892 - PubMed: Khan 2010 proband M yes Indonesia Indonesian - - - - retinal disease Onset of night blindness was at adolescence, whereas fundus examination revealed bone spicules and arterial attenuation (no fundus picture available). Low visual acuity; VA at time of diagnosis 20/400 both eyes 1 1 Rob W.J. Collin
00143893 - PubMed: Khan 2010 - M yes Indonesia Indonesian - - - - retinal disease Onset of night blindness was at adolescence, whereas fundus examination revealed bone spicules and arterial attenuation (no fundus picture available). Low visual acuity; VA at time of diagnosis 20/400 both eyes 1 1 Rob W.J. Collin
00143894 - PubMed: Pieras 2011 - ? ? (Spain);(France) - - - - - retinal disease - 1 1 Rob W.J. Collin
00143895 - PubMed: Gonzalez-del Pozo 2011 - ? ? Spain Spanish - - - - retinal disease - 1 1 Rob W.J. Collin
00143896 - PubMed: Audo 2012 index patient F yes - Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143897 - PubMed: Audo 2012 index patient M yes - Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143898 - PubMed: Audo 2012 - F yes - Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143899 - PubMed: Audo 2012 - F yes - Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143900 - PubMed: Audo 2012 - F yes - Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143901 - PubMed: Audo 2012 - M yes - Jewish - - - - retinal disease - 1 1 Rob W.J. Collin
00143902 - PubMed: Iwanami 2012 - F ? Japan Japanese - - - - retinal disease Age 56; Age diagnosis 55; symptom: Night blindness in her mid-twenties; visual acuity: R 0,2 L 0,5; lens status: IOL (NS); Fundoscopy results: Normal optic disc, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules. 1 1 Rob W.J. Collin
00143903 - PubMed: Iwanami 2012 - M ? Japan Japanese - - - - retinal disease Age 53; Age diagnosis 33; symptom: Night blindness after age 20; visual acuity: R 0,2 L 0,03; lens status: IOL (ASC); Fundoscopy results: Normal optic disc, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules. OCT: severe foveal atrophy in both eyes. 1 1 Rob W.J. Collin
00143904 - PubMed: Iwanami 2012 - F ? Japan Japanese - - - - retinal disease Age 67; Age diagnosis 41; symptom: Night blindness after age 20; visual acuity: R 0,3 L 0,3; lens status: IOL (NS); Fundoscopy results: Mild optic disc pallor, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules. 1 1 Rob W.J. Collin
00143905 - PubMed: Iwanami 2012 - F ? Japan Japanese - - - - retinal disease Age 50; Age diagnosis 48; symptom: Night blindness since early childhood; visual acuity: R 1,2 L 1,2; lens status: NS cataract; Fundoscopy results: Mild optic disc pallor, moderately attenuated vessels, mid-periphery and macular RPE atrophy with bone spicules 1 1 Rob W.J. Collin
00143906 - PubMed: Iwanami 2012 - F no Japan Japanese - - - - retinal disease Age 50; Age diagnosis 39; symptom: Night blindness since age 12; visual acuity: R 1 L 1; lens status: IOL (PSC); Fundoscopy results: Normal optic disc, moderately attenuated vessels, mid-periphery RPE atrophy with bone spicules, macula preserved. 1 1 Rob W.J. Collin
00143907 - PubMed: Iwanami 2012 - M ? Japan Japanese - - - - retinal disease Age 54; Age diagnosis 39; symptom: Night blindness after age 20; visual acuity: R 0,9 L 1; lens status: Clear; Fundoscopy results: Normal optic disc, mild attenuated vessels, mid-periphery RPE atrophy with few bone spicules, macula preserved 1 1 Rob W.J. Collin
00143908 - PubMed: Suto 2014 index patient F no Japan Japanese - - - - retinal disease visual acuity: R 0.07 L 0.08; refraction R(D) +1 L(D) +1.25; lens status: bilateral pseudophakia; Goldmann Perimetry: OD 8°, OS 7°; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery, extensive bone spicules throughout periphery; ERG: extinguished 1 1 Rob W.J. Collin
00143909 - PubMed: Hosono 2012 Sibling of RP3H, II-6 M no Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00143910 - PubMed: Suto 2014 - M no Japan Japanese - - - - retinal disease visual acuity: R 0.6 L 0.6; refraction R(D) -1.25 L(D) -.; lens status: clear; Goldmann Perimetry: OD 6°, OS 7°; fundoscopy: normal optic disc, slightly attenuated vessels, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery 1 1 Rob W.J. Collin
00143911 - PubMed: Suto 2014 - M no Japan Hamamatsu, Japanese - - - - retinal disease visual acuity: R LP L LP; refraction R(D) -3 L(D) -3; lens status: bilateral pseudophakia; Goldmann Perimetry: unmeasurable; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery; OCT: relatively preserved foveal lamination; ERG: extinguished 1 1 Rob W.J. Collin
00143912 - PubMed: Suto 2014 - M no Japan Toyooka, Japanese - - - - retinal disease visual acuity: R 1 L 1; refraction R(D) -6 L(D) -5.25; lens status: clear; Goldmann Perimetry: OD, OS: concentric constriction with remaining centrl island, remaining peripheral island. P0; fundoscopy: normal optic disc, slightly attenuated vessels, RPE changes in periphery, bone spicules sprinkled throughout periphery 1 1 Rob W.J. Collin
00143913 - PubMed: Suto 2014 - M no Japan Himeji, Japanese - - - - retinal disease visual acuity: R 0.7 L 0.3; refraction R(D) -2.25 L(D) -1.5; lens status: right cateract, left pseudophakia; Goldmann Perimetry: OD 8°, OS 8°; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery; OCT: foveal thinning 1 1 Rob W.J. Collin
00143914 - PubMed: Suto 2014 - F no Japan Japanese, Aichi - - - - retinal disease visual acuity: R 0.6 L 0.6; refraction R(D) 0 L(D) 0; lens status clear; Goldmann Preimetry: OD, OS: concentric constriction with remaining central island, remaining peripheral island; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery, extensive bone spicules throughout periphery 1 1 Rob W.J. Collin
00143915 - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00143916 - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00143917 - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00143918 - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00143919 - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
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