ABCA4 p.Val675Ile
| Predicted by SNAP2: | A: N (72%), C: N (72%), D: D (63%), E: N (61%), F: N (61%), G: D (59%), H: N (66%), I: N (93%), K: N (57%), L: N (87%), M: N (82%), N: N (61%), P: N (53%), Q: N (66%), R: N (53%), S: N (66%), T: N (78%), W: D (66%), Y: N (61%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] Quantitative Fundus Autofluorescence and Optical C... Invest Ophthalmol Vis Sci. 2015 May;56(5):3159-70. doi: 10.1167/iovs.14-16343. 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., [PMID:26024099]
Abstract [show]
PURPOSE: To assess whether quantitative fundus autofluorescence (qAF), a measure of RPE lipofuscin, and spectral-domain optical coherence tomography (SD-OCT) can aid in the differentiation of patients with fundus features that could either be related to ABCA4 mutations or be part of the phenotypic spectrum of pattern dystrophies. METHODS: Autofluorescence images (30 degrees , 488-nm excitation) from 39 patients (67 eyes) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference and were quantified as previously described. In addition, horizontal SD-OCT images through the fovea were obtained. Patients were screened for ABCA4 and PRPH2/RDS mutations. RESULTS: ABCA4 mutations were identified in 19 patients (mean age, 37 +/- 12 years) and PRPH2/RDS mutations in 8 patients (mean age, 48 +/- 13 years); no known ABCA4 or PRPH2/RDS mutations were found in 12 patients (mean age, 48 +/- 9 years). Differentiation of the groups using phenotypic SD-OCT and AF features (e.g., peripapillary sparing, foveal sparing) was not reliable. However, patients with ABCA4 mutations could be discriminated reasonably well from other patients when qAF values were corrected for age and race. In general, ABCA4 patients had higher qAF values than PRPH2/RDS patients, while most patients without mutations in PRPH2/RDS or ABCA4 had qAF levels within the normal range. CONCLUSIONS: The high qAF levels of ABCA4-positive patients are a hallmark of ABCA4-related disease. The reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation.
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No. Sentence Comment
62 [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.
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ABCA4 p.Val675Ile 26024099:62:813
status: NEW