ABCMdb

PMID: 18161617

Barbazetto IA, Yannuzzi NA, Klais CM, Merriam JE, Zernant J, Peiretti E, Yannuzzi LA, Allikmets R
Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes.
Ophthalmic Genet. 2007 Dec;28(4):192-7., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCA4 p.Gly1961Glu ABCA4 p.Thr897Ile The screening revealed an I32V mutation in peripherin/RDS in one patient and 2 ABCA4 variants, T897I and G1961E, in 2 more patients. Login to comment 42 ABCA4 p.Gly1961Glu ABCA4 p.Thr897Ile Thecompletescreeningofthe5candidategenesin28patients revealed the I32V mutation in peripherin /RDS in one patient and 2 ABCA4 variants, T897I and G1961E, in 2 more patients. Login to comment 47 ABCA4 p.Gly1961Glu The right eye (A) shows a partially resolved pseudo-vitelliform detachment with cuticular and soft drusen, while drusen-like deposits are seen in the left eye (B); patient #5 (C, D) with the ABCA4 G1961E mutation. Login to comment 49 ABCA4 p.Thr897Ile The right eye (C) reveals a plaque-like area of pigmentary changes in the center of the macula after previous PDT treatment; patient #10 (E, F) carrying the ABCA4 T897I mutation. Login to comment 52 ABCA4 p.Gly1961Glu ABCA4 p.Thr897Ile Sex Age CHF genotype Other mutations VA OD VA OS Drusen type Hyper Hypo CNV GA Pseudo 1 F 81 CT 20/25 20/40 C, SI y y y 2 M 76 CT 20/80 20/20 C, SI y n y 3 F 49 CT 20/25 20/30 C n n n 4 F 72 CT RDS I32V 20/50 20/20 C n n y 5 M 54 TT ABCA4 G1961E 20/80 20/50 C, SI y n n 6 M 52 TT 20/150 20/20 C y y y 7 M 76 TT 20/80 20/100 C, R y y y 8 M 76 CT 10/400 20/100 C, SI y y n 9 F 60 CT 20/20 20/50 C, SI y y y 10 F 83 CC ABCA4 T897I 20/30 20/60 C, SI n n y 11 F 60 TT 20/30 20/30 C n n y 12 F 78 TT 20/30 20/80 C, SI y y y 13 F 40 CT 20/40 20/20 C, SI y y y 14 F 65 CT 20/30 20/80 C y y y 15 M 73 TT 20/30 20/40 C, SI y y y 16 F 49 CC 20/50 20/50 C, SI y y y 17 M 91 CC 20/200 20/30 C, SI y y y 18 F 79 CC 20/30 20/30 C n n y 19 M 41 CT 20/25 20/25 C n y n 20 F 64 CT CF 20/25 C, SI y y CNV y 21 F 58 TT 20/40 20/30 C n n n 22 F 61 CT 20/50 20/70 C, SI y y GA y 23 F 80 CT 20/20 20/40 C, SI y y n 24 F 79 CT 20/60 20/30 C, SI n y y 25 F 77 CT 20/80 20/40 C, SI y y y 26 F 46 CT 20/30 20/40 C, SI y y n 27 F 74 TT 20/40 20/80 C, SI n y y 28 M 73 CT 20/60 20/400 C n y y VA-visual acuity. Login to comment