ABCMdb

PMID: 26230768

Sparrow JR, Marsiglia M, Allikmets R, Tsang S, Lee W, Duncker T, Zernant J
Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.
Invest Ophthalmol Vis Sci. 2015 Jul;56(8):5029-39. doi: 10.1167/iovs.15-16763., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCA4 p.Gly1961Glu Summary of Demographic, Clinical, and Genetic Data Patient Sex Age Race/Ethnicity BCVA, logMAR ABCA4 Mutations OD OS 1 F 35.52 Caucasian 0.8 0.8 p. [G1961E]; c. Login to comment 48 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Leu541Pro ABCA4 p.Leu2027Phe ABCA4 p.Thr1526Met ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Thr972Asn ABCA4 p.Lys346Thr ABCA4 p.Thr1117Ile ABCA4 p.Arg1161Ser [IVS15&#fe;1G>A 2 M 12.00 Caucasian 0.5 0.5 p. [L541P; A1038V] 3* M 9.00 Caucasian 1 1 p. [W855*]; [T1526M] 4 F 47.55 Caucasian 1.3 1.3 p. [L541P; A1038V]; [G1961E] 5* F 16.47 Caucasian 0.6 0.6 p. [T972N]; [L2027F] 6* M 16.98 Caucasian 1.3 1.3 p. [K346T]; [T1117I] 7 F 23.80 Caucasian 0.6 0.4 p. [R1161S] 8* F 28.67 Caucasian 1.3 1.3 p. [P1380L]; [P1380L] 9 M 42.83 Caucasian 0.9 0.4 c. Login to comment 49 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Cys1490Tyr ABCA4 p.Arg2106Cys ABCA4 p.Leu2027Phe ABCA4 p.Pro1380Leu [571-1G>T 10* M 13.89 Caucasian 0.4 0.4 p. [L541P; A1038V]; [L2027F] 11* F 20.20 Caucasian 0.9 0.9 p. [P1380L]; [G1961E] 12 M 27.61 African-Arab 0 0 p. [R1300*]; [R2106C] 13* M 46.93 Caucasian 0.3 0.4 p. [C1490Y]; [G1961E] 14* M 26.82 Caucasian 0 0 c. Login to comment 50 ABCA4 p.Gly1961Glu ABCA4 p.Gly991Arg [3050&#fe;5G>A]; p. [G1961E] 15 M 48.36 African American 0 0 p. [G991R]; c. Login to comment 51 ABCA4 p.Gly863Ala [570&#fe;1798A>G] 16* F 24.44 Caucasian 0.2 0 p. [G863A]; c. Login to comment 52 ABCA4 p.Arg2107His ABCA4 p.Arg2077Trp ABCA4 p.Asn1799Asp ABCA4 p.Trp339Gly [5898&#fe;1G>A 17 F 35.33 Caucasian 0.9 0.1 p. [N1799D] 18* F 52.33 African American 0.2 0.3 p. [W339G]; [R2107H] 19 F 54.03 Caucasian 0.3 0.2 p. [R2077W] BCVA, best-corrected visual acuity; logMAR, logarithm of the minimum angle of resolution; OD, right eye; OS, left eye. Login to comment