ABCMdb

PMID: 25283059

Duncker T, Tsang SH, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
Ophthalmology. 2015 Feb;122(2):345-55. doi: 10.1016/j.ophtha.2014.08.017. Epub 2014 Oct 3., [PubMed]

Sentences

No. Mutations Sentence Comment

65 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.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly863Ala ABCA4 p.Arg212Cys ABCA4 p.Leu541Pro ABCA4 p.Asn96Asp ABCA4 p.Asn96Asp ABCA4 p.Cys2150Arg ABCA4 p.Pro1380Leu ABCA4 p.Arg1129Cys ABCA4 p.Ala1773Val ABCA4 p.Trp15* ABCA4 p.Gln1003* Sex Age (yrs) Race or Ethnicity Best-Corrected Visual Acuity (Logarithm of the Minimum Angle of Resolution Units) Genetic Data Average of Quantitative Fundus Autofluorescence Values of the 8 Segments ABCA4 Mutations Right Eye Left Eye Allele 1 Allele 2 Right Eye Left Eye 1 M 36 White 0.70 0.70 p.G1961E p.G1961E 282 279 2 F 46 White 0.40 0.40y p.G1961E p.R1129C 391 3 M 17 Asian Indian 0.70 0.88 p.G1961E c.6729&#fe;4_&#fe;18del 340 363 4 M 17 White 0.88 0.88 p.G1961E p.A1773V 340 366 5 M 21 White 0.88 0.88 p.G1961E p.W15* 341 325 6 F 22 White 0.70 0.48 p.G1961E p.G863A 361 351 7 F 20 White 0.70z 0.88z p.G1961E p.L541P 317 8 M 12 White 0.80 0.70 p.G1961E p.P1380L 251 242 9 F 21 White 0.88 0.88 p.G1961E p.R212C 407 439 10 F 26 White 0.40z 0.70z p.G1961E c.5196&#fe;1056A/G 379 344 11 F 24 White 0.88z 0.88z p.G1961E p.C2150R 405 396 12 F 24 White 0.30z 0.18z p.G1961E p.N96D 513 549 13 F 20 White 0.30 0.40 p.G1961E p.N96D 397 355 14 M 25 White 0.00y 0.30 p.G1961E p.Q1003* 322 328 15 M 8.2 White 0.88 0.88 p. Login to comment 66 ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Arg2107His ABCA4 p.Arg2106Cys ABCA4 p.Arg2030Gln ABCA4 p.Trp821Arg ABCA4 p.Cys2150Tyr ABCA4 p.Gly991Arg ABCA4 p.Leu1138Pro ABCA4 p.Lys1547* ABCA4 p.Gln1412* ABCA4 p.Arg1300* [L541P; A1038V] 438 432 16 M 25 White 0.60 0.60 p.S84fs p.R2107H 294 17 F 24 Black 0.70 0.88 p.G991R p.L1138P 321 326 18 M 26 White 0.00y 0.00y p.R1300* p.R2106C 419 412 19 M 11 White 0.40z 0.40z p.W821R p.C2150Y 304 296 20 F 16 White 0.70 0.40 p.K1547* p.R2030Q 481 513 21 F 13 White 1.30 1.00 pR1108C p.Q1412* 511 528 22 F 18 White 0.00 0.00 p.G863A c.5898&#fe;1G/A 465 431 Mutations in Other Genes 23 F 16 White 0.40 0.48 GUCY2D e p.R838H 152 165 24 M 53 Black 0.88 0.88 CNGA3 e p. Login to comment 82 ABCA4 p.Gly1961Glu One patient was homozygous and 13 patients were compound heterozygous for the p.G1961E variant. Login to comment 103 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu younger than 30 years, we found that mean qAF8 was 36672 qAF units for patients carrying the p.G1961E mutation and 41689 for patients carrying variants other than p.G1961E, but the difference was not significant (P &#bc; 0.2, 2-tailed t test). Login to comment 104 ABCA4 p.Gly1961Glu There was no difference in age between ABCA4-positive patients who carried the p.G1961E variant and those who did not (P &#bc; 0.1, unpaired t test). Login to comment 139 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu It is also worth noting that in the case of G1961E mutations in ABCA4, neither fluorescein angiography nor qAF may be helpful imaging methods; a dark choroid is absent in these individuals,27 and in the presence of the G1961E mutation, qAF values can be within the normal range for age (Fig 5). Login to comment 158 ABCA4 p.Gly1961Glu One possibility is that certain ABCA4 mutations, for instance, the p.G1961E variant, may elicit a stronger effect on cones than rods. Login to comment 159 ABCA4 p.Gly1961Glu Although p.G1961E is the most frequent ABCA4 variant in STGD1 (allele frequency, approximately 10%),32,33 it is still remarkable that 14 of 22 ABCA4-positive BEM patients (64%) carried this variant. Login to comment 160 ABCA4 p.Gly1961Glu It has been noted before, however, that the p.G1961E variant seems to be associated with the BEM phenotype and a milder disease spectrum.2,20,32,34 The notion that STGD1 patients with a BEM phenotype have less widespread disease is supported further by Figure 7, which shows the qAF8 levels of the white ABCA4-positve BEM patients in comparison with previously published20 results from white STGD1 patients with phenotypes other than BEM, including patients with extramacular fundus changes. Login to comment 170 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro This is illustrated in Figure 8, in which disease progression over 2.5 years is shown for the brother of patient 15, who also carries the complex allele L541P/ A1038V. Login to comment 187 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro This ABCA4-positive patient was not included in the study (because of presence of peripheral flecks), but he also carries the complex allele L541P/A1038V. Login to comment