ABCMdb

PMID: 26024099

Duncker T, Tsang SH, Woods RL, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.
Invest Ophthalmol Vis Sci. 2015 May;56(5):3159-70. doi: 10.1167/iovs.14-16343., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu Summary of Demographic, Clinical, and Genetic Data Patient Sex Age Race BCVA, logMAR ABCA4 Mutation PRPH2/RDS Mutation qAF8 OD OS Allele 1 Allele 2 OD OS 1 F 35.5 White 0.80 0.80 p.G1961E c.2382&#fe;1G>A NS n/a 532 2ߤ M 34.5 White 0.30 0.18 p.G1961E p. Login to comment 61 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro [L541P;A1038V] NS 425 n/a 3ߤ M 34.5 White 0.18 0.18 p.G1961E p. Login to comment 62 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Met1882Ile ABCA4 p.Val675Ile [L541P;A1038V] NS 356 352 4 F 35.8 White 0.00 0.00 NF NF p.C213S 513 444 5 F 43.4 White 0.00 0.00 NF NF NF 489 424 6 M 34.2 White n/a n/a NF NF NF 293 302 7 M 58.9 White 1.00 0.88 NF NF NF 288 n/a 8 F 62.4 White 0.30 0.30 NF NF c.582-1G>A 479 535 9 F 60.3 White 0.88 0.88 c.4248_4250delCTT NF NF 510 457 10 M 57.9 White 0.60 0.60 NF NF NF n/a 384 11ߥ F 56.8 White 0.18 0.18 NF NF c.163delT 398 370 12* F 53.9 White 0.00 0.00 NF NF p.Y91N;c.310_313delATCT 536 564 13* F 47.9 White 0.00 0.30 NF NF p.Y91N;c.310_313delATCT 510 524 14 F 42.2 White 0.48 0.48 c.2069delG NF NF 541 571 15 F 52.8 White 0.00 0.00 NF NF NF 355 n/a 16 M 42.8 White 0.88 0.40 c.571-1G>T NF NF 518 529 17 M 42.8 White 0.10 0.00 NF NF NF 164 162 18 F 38.5 White 0.12 0.00 c.250_251insCAAA NF NF n/a 624 19 M 50.2 Asian&#a7; 0.60 0.70 p.V675I p.M1882I NF 471 502 20ߥ F 36.1 White 0.30 0.30 NF NF c.163delT 736 751 21 F 50.8 White 0.48 0.40 NF NF NF 396 367 22 M 48.6 Black 1.00 0.48 NF NF NF 351 339 23 F 25.6 White 1.00 1.00 p.G1961E p. Login to comment 63 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Pro1380Leu [L541P;A1038V] NS n/a 443 24 F 20.2 White 0.88 0.88 p.G1961E p.P1380L NS 376 400 25 F 22.9 White 0.88 0.80 p. Login to comment 64 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Arg212Cys ABCA4 p.Cys2150Tyr ABCA4 p.Ala854Thr [A854T;A1038V] p.C2150Y NS 367 426 26 F 53.5 White 0.60 0.48 p.R212C NF NF 754 683 27 M 52.2 White 0.70 0.60 p.G1961E c.3050&#fe;5G>A NF 644 n/a 28 M 31.7 Asian&#a7; 0.48 0.48 c.859-9T>C c.859-9T>C NF n/a 317 29 F 49.8 White 0.00 0.00 NF NF NF 493 510 30 M 24.8 White 0.00 0.00 p.G1961E c.3050&#fe;5G>A NS 381 451 31 F 29.3 White 0.40 0.40 p.G1961E p. Login to comment 65 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Pro1380Leu ABCA4 p.Arg2077Trp ABCA4 p.Asn1799Asp [L541P;R1443H] NS 479 487 32 F 23 White 0.30 0.18 p.G1961E p.P1380L NF 412 444 33 M 28.4 White 0.70 0.48 NF NF NF 388 n/a 34ߥ M 61.5 White 1.30 0.60 NF NF E191Xjj 490 459 35ߥ M 30.6 White 0.00 0.00 NF NF E191Xjj 345 324 36 M 51.5 White 0.30 0.54 NF NF NF 515 497 37 M 53.2 White 0.60 0.60 NF NF NF 212 239 38 F 35.3 White 0.88 0.10 p.N1799D NF NF n/a 387 39 F 55 White 0.00 0.00 p.R2077W NF NF 541 586 BCVA, best-corrected visual acuity; logMAR, logarithm of the minimum angle of resolution; OD, right eye; OS, left eye; qAF8, average quantitative autofluorescence of the 8 measurement sites from all available images per eye; n/a, not available; NF, not found. Login to comment 214 ABCA4 p.Gly1961Glu ABCA4-positive patients exhibiting a BEM phenotype were also reported to have lower qAF than ABCA4-positve patients with other phenotypes, including those with extramacular disease.23 In the case of ABCA4-positive BEM, many of the patients carried the G1961E mutation, which was also the case for 9/19 of the ABCA4-positive patients in this study. Login to comment