ABCMdb

PMID: 25342616

Duncker T, Marsiglia M, Lee W, Zernant J, Tsang SH, Allikmets R, Greenstein VC, Sparrow JR
Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
Invest Ophthalmol Vis Sci. 2014 Oct 23;55(12):8134-43. doi: 10.1167/iovs.14-14848., [PubMed]

Sentences

No. Mutations Sentence Comment

86 ABCA4 p.Gly1961Glu Age Sex Ethnicity Iris Color BCVA, logMAR ABCA4 Mutation Patient Group OD OS Allele 1 Allele 2 1 35.5 F White Brown 0.8 0.8 p.G1961E c.2382&#fe;1G>A 1 2 11.4 M White Hazel 0.5 0.6 p. Login to comment 87 ABCA4 p.Leu541Pro [L541P;A1038V] 4 3 8.2 M White Hazel (0.9) 0.9 p. Login to comment 88 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Thr1526Met ABCA4 p.Pro1380Leu [L541P;A1038V] 4 4 17.9 M Indian Brown 0.7 0.9 p.G1961E c.6729&#fe;4_&#fe;18del 3 5 12.1 M White Green 0.8 0.7 p.G1961E p.P1380L 3 6 46.4 M Black Brown 0.3 0.8 p.T1526M 2 7 42.6 F White Brown 1.3 1.3 p.G1961E p. Login to comment 89 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Asn96Asp ABCA4 p.Asn96Asp ABCA4 p.Gln1003* [L541P;A1038V] 2 8 42.8 M White Blue 0.9 0.4 c.571-1G>T 1 9 24.6 F White Hazel 0.3 0.2 p.G1961E p.N96D 5 10 21.9 F White Brown 0.3 0.4 p.G1961E p.N96D 5 11 25.3 M White Brown 0.0 0.3 p.G1961E p.Q1003* 3 12 8.5 M White Green n/a (n/a) p. Login to comment 90 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Leu2027Phe [L541P;A1038V] p.L2027F 4 13 19.7 M White Brown 0.9 0.9 p.G1961E p. Login to comment 91 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Arg212Cys ABCA4 p.Leu541Pro ABCA4 p.Arg2106Cys ABCA4 p.Cys2150Arg ABCA4 p.Arg1108Cys ABCA4 p.Trp821Arg ABCA4 p.Pro1380Leu ABCA4 p.Cys2150Tyr ABCA4 p.Arg2077Trp ABCA4 p.Asn1799Asp ABCA4 p.Ala1773Val ABCA4 p.Gln1412* ABCA4 p.Arg1300* [L541P;A1038V] 5 14 22.4 F White Brown 0.8 0.8 p.R212C 3 15 20.2 M White Brown 0.9 0.9 p.G1961E p.P1380L 1 16 27.6 M Arabic Brown 0.0 0.0 p.R1300* p.R2106C 3 17 26.8 M White Blue 0.5 0.5 p.G1961E c.3050&#fe;5G>A 1 18 24.9 F White Hazel 0.9 0.9 p.G1961E p.C2150R 5 19 13.2 M White Blue 0.9 1.0 p.W821R p.C2150Y 3 20 61.0 F White Green 2.0 0.0 c.250_251insCAAA 2 21 36.3 F White Blue 1.3 0.1 p.N1799D 1 22 14.1 F White Green 1.0 0.9 p.R1108C p.Q1412* 2 23 18.6 M White Brown 0.9 0.9 p.G1961E p.A1773V 3 24 53.3 F White Blue 0.3 (0.2) p.R2077W 2 BCVA values in parenthesis indicate fellow eyes that were not included in the study. Login to comment 167 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Interestingly, these patients were the youngest in our cohort and all carried the complex allele L541P/A1038V. Login to comment 168 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro The latter mutations are located in the exocytoplasmic domain-1 and nucleotide binding domain-1 and confer severe and relatively early-onset retina-wide disease.37-40 In recent work using quantitative fundus AF, we also reported that the L541P/ A1038V complex allele confers particularly high levels of fundus AF.4 At positions where EZ is disrupted, the NIR-AF signal may be detectable even if the RPE cells are dysfunctional. Alternatively, this pattern could indicate that in these cases photoreceptor cells die first. Login to comment 194 ABCA4 p.Gly1961Glu 2. Burke TR, Fishman GA, Zernant J, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Login to comment