ABCA4 p.Arg1068Ser
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PMID: 21296825
[PubMed]
Chen Y et al: "Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease."
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109
TABLE1.ClinicalCharacteristicsofthePatientswithStargardtDisease Patient/EyeAge(y)/SexABCA4MutationsBCVA ETDRS ScoreColorVision* GoldmannVisual Field† HumphreyVisualField 10-2 Foveal Threshold (dB)Fixation F1P1OS16/MPro1486Leu/6bp insϩ32bpdel atbase672 20/4075None,0,1.34V4e:full;14e:1°ctl scotoma 8°ctlscotomawithϽ1 logunitsensitivityloss 30Foveal F1P2OS15/MPro1486Leu/6bp insϩ32bpdel atbase672 20/16040NS,2,1.99V4e:full;14e:1°ctl scotoma Densescotomabeginning 4°superiortofixation 27Superior F2P1OS25/FGlu1412Stop20/6361None,0,1.00V4e,14e:full,12e: 5°ctlscotoma 6°ctlscotoma31Foveal F3P1OD24/MGly863Ala20/10050NS,6,2.72V4e:full;14e:3-4° ctlscotoma 3°-4°scotomasuperior tofixation 32Superior F4P1OS16/FNodisease-causing mutations identified 20/20035NS,5,2.25V4e:full;14e:35° ctlscotoma 15°ctlscotomawith eccentricfixation superonasally 8Nasal,slightlybelow horizontal meridian F5P1OS42/M5461-10TϾCintron 39/Gly1961Glu 20/32023NS,5,2.27V4e:full;14e:10° ctlscotoma 12°densectlscotoma27Superonasal F6P1OS19/FLys223Gln/C2291 15bp/5amino aciddeletion (CSGVI) 20/20035NS,6,1.99V4e:full;14e:35° ctlscotoma 10°ctlscotoma20Superonasal F7P1OS55/FArg212Cys/ Gly863Ala/ Thr959Ile 20/16040NS,3,2.01V4e:10°ctl scotoma;14e:20° ctlscotoma Dense15°ctlscotoma6Superonasal F8P1OS36/MSer336Cys/ Arg1068/Ser‡ 20/20034NS,8,3.62V4e:20°ctl scotoma;14e:25° ctlscotoma Densescotomabeginning 6°superiortofixation 12Superior F9P1OS28/MArg1108His/ Val1433lle 20/32025NS,11,3.30V4e:full;14e:15° scotomafrom5- 25°superiorto fixation Densescotomabeginning 5°superiortofixation 23Superior F10P1OS55/FIVS20ϩ5GϾA splice/Gly1961Glu 20/32025NS,6,2.55V4e:30°ctl scotoma;14e:35° ctlscotoma Densescotomaextending fromfixationto10° inferonasally 19Inferonasal F11P1OS50/MArg2030Gln20/2580Tritan,7,2.61V4e:full;14e:25° ctlscotomafrom 10-25°with fovealsparing Densescotomaextending fromfixationto10° withfovealsparing 27Foveal ctl,central;F,family;F,female;M,male;NS,nonspecificorientation;OD,righteye;OS,lefteye;P,proband.
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ABCA4 p.Arg1068Ser 21296825:109:1559
status: NEW