ABCMdb

PMID: 21873672

Burke TR, Rhee DW, Smith RT, Tsang SH, Allikmets R, Chang S, Lazow MA, Hood DC, Greenstein VC
Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).
Invest Ophthalmol Vis Sci. 2011 Oct 10;52(11):8006-15. Print 2011., [PubMed]

Sentences

No. Mutations Sentence Comment

112 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Arg1640Trp ABCA4 p.Arg1640Trp ABCA4 p.Cys54Tyr ABCA4 p.Arg602Trp ABCA4 p.Asn965Ser ABCA4 p.Thr1253Met ABCA4 p.Leu2027Phe ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Cys2150Tyr ABCA4 p.Ile1846Thr ABCA4 p.Ser1696Asn ABCA4 p.Arg2077Trp ABCA4 p.Arg1108His ABCA4 p.Glu161Lys ABCA4 p.Val1693Ile ABCA4 p.Ala854Thr ABCA4 p.Gly851Asp ABCA4 p.Tyr106* Summary of Clinical, Demographic, and Genetic Data Patient Sex Age at Exam (y) Eye VA BCEA 1 SD (deg 2 ) Eccentricity of PRL (deg) ERG Group FAF Abnormalities Allele 1 Allele 2 Allele 3 Distribution Peripapillary Area 1 F 43 OS 20/20 0.73 0 II M - A1799D ND ND 2 M 30 OS 20/150 3.21 6 I M - T1253M G1961E ND 3 F 55 OD 20/30 1.82 0 I EM - G863A IVS28af9;5 Gb0e;T ND 4 M 44 OD 20/25 0.65 0 I M - E161K ND ND 5.1 F 24 OD 20/200 1.57 1 I M - L541P/A1038V G1961E ND 5.2 F 22 OD 20/30 2.74 1 I M - L541P/A1038V G1961E ND 6.1 F 21 OD 20/150 2.01 1 I M - L541P/A1038V G1961E ND 6.2 F 18 OS 20/100 3.09 4 I M - L541P/A1038V G1961E ND 7 F 27 OS 20/400 2.97 9* II EM Peripapillary atrophy L2027F G851D ND 8 M 34 OS 20/100 2.16 4 I M - G1961E G1961E ND 9 M 20 OS 20/150 2.77 4 I M - IVS20af9;5 Gb0e;A G1961E ND 10 F 23 OS 20/150 9.05 5 I M - L541P/A1038V I1846T ND 11 M 59 OS 20/100 6.52 10 II EM - P1380L S1696N ND 12 M 49 OD 20/150 9.97 1 I EM Nasalaf9;temporal flecks R1108H P1380L ND 13 M 47 OS 20/80 5.62 7 I EM - G863A Y106X ND 14 F 42 OD 20/200 9.53 9 I EM Temporal flecks N965S ND ND 15 M 14 OD 20/200 23.84 1 II EM Nasal flecks IVS38-10 Tb0e;C IVS40af9;5 Gb0e;A ND 16 M 52 OS 20/20 1.3 0 I M - IVS38-10 Tb0e;C ND ND 17 M 34 OS 20/30 2.8 1 I M - L541P/A1038V G1961E ND 18 F 33 OD 20/100 6 6 I M - G1961E R2077W ND 19 F 22 OS 20/60 11 4 I M - A854T A1038V C2150Y 20 F 34 OS 20/200 14.2 14 I EM - G1961E ND ND 21 F 19 OD 20/200 3.7 12 I EM - R602W M18821 ND 22 F 27 OD 20/400 9.6 9 II EM Peripapillary atrophy P1380L P1380L ND 23 F 18 OS 20/50 4.9 5 I EM - R1640W V1693I ND 24 M 22 OS 20/150 10.5 2 I EM - C54Y ND ND 25 M 44 OS 20/150 9.1 5 I EM - R1640W ND ND VA, visual acuity; Rel. Login to comment 117 ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro TABLE1.SummaryofClinical,Demographic,andGeneticData PatientSex Ageat Exam(y)EyeVA BCEA1SD (deg2 ) Eccentricity ofPRL(deg) ERG Group FAFAbnormalities Allele1Allele2Allele3DistributionPeripapillaryArea 1F43OS20/200.730IIM-A1799DNDND 2M30OS20/1503.216IM-T1253MG1961END 3F55OD20/301.820IEM-G863AIVS28ϩ5GϾTND 4M44OD20/250.650IM-E161KNDND 5.1F24OD20/2001.571IM-L541P/A1038VG1961END 5.2F22OD20/302.741IM-L541P/A1038VG1961END 6.1F21OD20/1502.011IM-L541P/A1038VG1961END 6.2F18OS20/1003.094IM-L541P/A1038VG1961END 7F27OS20/4002.979*IIEMPeripapillaryatrophyL2027FG851DND 8M34OS20/1002.164IM-G1961EG1961END 9M20OS20/1502.774IM-IVS20ϩ5GϾAG1961END 10F23OS20/1509.055IM-L541P/A1038VI1846TND 11M59OS20/1006.5210IIEM-P1380LS1696NND 12M49OD20/1509.971IEMNasalϩtemporalflecksR1108HP1380LND 13M47OS20/805.627IEM-G863AY106XND 14F42OD20/2009.539IEMTemporalflecksN965SNDND 15M14OD20/20023.841IIEMNasalflecksIVS38-10TϾCIVS40ϩ5GϾAND 16M52OS20/201.30IM-IVS38-10TϾCNDND 17M34OS20/302.81IM-L541P/A1038VG1961END 18F33OD20/10066IM-G1961ER2077WND 19F22OS20/60114IM-A854TA1038VC2150Y 20F34OS20/20014.214IEM-G1961ENDND 21F19OD20/2003.712IEM-R602WM18821ND 22F27OD20/4009.69IIEMPeripapillaryatrophyP1380LP1380LND 23F18OS20/504.95IEM-R1640WV1693IND 24M22OS20/15010.52IEM-C54YNDND 25M44OS20/1509.15IEM-R1640WNDND VA,visualacuity;Rel.Unstable,relativelyunstablefixation;FAFAbn,fundusautofluorescenceabnormalities;M,macularonly;EM,extramacular;N,nasal;T,temporal;ND,notdetected. Login to comment