Table 2 of
Sultana, Mol Vis 2007;
13:1327-1332.Table 2 of
Sultana, Mol Vis 2007;
13:1327-1332.
Table 2. Mutations and phenotypic features of patients with autosomal recessive congenital hereditary endothelial dystrophy
Families and mutations listed in Table 1 are shown here with corresponding age at onset (given in years) and of first graft (in parentheses) and the thickness of cornea and Descemets membrane. "NA" indicates not available. Mutations for the last three patients listed are intronic and indicated in cDNA. Thickness of the Descemets membrane (DM) is graded as given in text. Corneal thickening is denoted by "+". For DM thickness, N indicates normal, ± indicates borderline thickening, and grades 1+ to 4+ represent increasing thickness as compared with corneas from age-matched normal controls. Visual acuities (VA) listed correspond to the best VA obtained after the first corneal graft. RE -right eye, LE-left eye, CF-counting fingers, FFL-fixing and following light. Nystagmus is shown as present (Y) or absent (-).
Sample Family Age at onset Post-op VA number number Mutation in SLC4A11 (first graft) Cornea DM (RE, LE) Nystagmus ------ ------ --------------------- ------------- ------ ---- -------------- --------- 1 CH-34 Tyr47SerfsX69 At birth (20) + 4+ 20/125, 20/100 Y 2 CH-42 Gly103ValfsX13 NA (7) + 1+ 20/125, 20/200 Y 3 CH-2 Arg158GlnfsX4 At birth (9) + 4+ 20/60, 20/30 - 4 CH-5 Arg158GlnfsX4 NA (13) + ± 20/40 - 5 CH-19 Val208AlafsX38 At birth (5) + 2+ 20/125 Y 6 CH-45 Val208AlafsX38 At birth (20) + 1+ CF1.5M Y 7 CH-31 Glu293_Glu296del At birth (8) + N 20/25, 20/40 - 8 CH-50 Asp797del At birth (6) + 1+ 20/50 - 9 CH-12 Leu440ValfsX6 At birth (9) + 4+ 20/70, 20/60 - 10 CH-52 Arg112X At birth (-) NA NA NA - 11 CH-40 Arg112X+Pro773Leu At birth (<1) + N NA - 12 CH-21 Arg112X+Thr584Lys At birth (4) + 1+ 20/80 Y 13 CH-63 Arg605X At birth (<1) + 2+ NA - 14 CH-65 Arg605X At birth (4) + 2+ 20/40, 20/50 - 15 CH-28 Arg605X At birth (9) + N CF1M, 20/70 - 16 CH-48 Glu632X At birth (12) + 4+ 20/80 - 17 CH-38 Gln803X At birth (7) + 4+ NA - 18 CH-30 Arg755Gln+Arg875X At birth (2) + 2+ 20/40 - 19 CH-3 Arg209Trp NA (11) + 4+ 20/50, 20/40 - 20 CH-20 Arg209Trp At birth (18) + 4+ 20/400 Y 21 CH-1 Ser213Leu At birth (10) + 2+ 20/400, 20/125 Y 22 CH-27 Arg233Cys At birth (6) + 2+ 20/50, 20/40 - 23 CH-61 Gly418Asp At birth (<1) + N NA Y 24 CH-17 Thr401Lys+Leu473Arg At birth (18) + 2+ NA, 20/100 - 25 CH-49 Ser489Leu At birth (<1) + ± FFL - 26 CH-16 Thr584Lys At birth (2) + ± 20/100, 20/400 Y 27 CH-11 Arg755Trp 6 years (10) + 2+ 20/50, 20/80 - 28 CH-57 Pro773Leu At birth (-) NA NA NA - 29 CH-8 Val824Met At birth (9) + 3+ 20/30, 20/20 - 30 CH-33 Val824Met NA (16) + N 20/50, NA - 31 CH-58 Arg869Cys At birth (5) + 1-2+ 20/400 Y 32 CH-32 Arg869Cys NA (13) + 1+ NA 33 CH-36 c.996+26C_+44Cdel19bp At birth (<1) + N 20/200, NA Y 34 CH-47 c.996+26C_+44Cdel19bp At birth (6) + N-1+ 20/50, 20/100 35 CH-53 c.1091-1G>C NA (24) + N 20/200, 20/160 Y |