Table 2 of Paliwal, Mol Vis 2010; 16:2955-2963.

Table 2. Details of families with autosomal recessive congenital hereditary endothelial dystrophy and SLC4A11mutations.

            BCVA at last F/Up              
S. no. Family no. Age/ sex
Nystagmus		 CCT RE/LE Age at PK
RE
LE		 Histopathological findings
Complications
Consanguinity		 Exon affected c.DNA position
of the change		 Amino acid position Indian state
of origin
1 Q1 16/F P PE/PE ND CF CF - - P 16 (Splice site) c.2240+1G>A Inactivation of splice site U.P.
2 18/M A 980/1010 18 6/24 CF ED+DMT -
3 Q2 18/F P PE/PE 10 6/24 CF ED+ DMT Graft rejection A 18 c.2470G>A Val824Met U.P.
4 22/M P PE/PE 12 CF CF ED+ DMT -
5 Q3 22/F P PE/516 20 CF 6/18 ED+ DMT Graft rejection A 18 c.2470G>A Val824Met Bihar
6 17/F P 1058/PE 17 6/36 CF ED+ DMT Graft rejection
7 Q4 7/M P 841/921 ND 6/60 6/60 - - A - NMD - Bihar
8 Q5 17/M A PE/PE ND CF 6/24 - - P - NMD - U.P.
9 Q6 28/F P 770/PE 26 4/60 CF ED+ DMT - A 18 (NOVEL) c2518-c2520 delCTG Leu840del Haryana
10 26/M P PE /853 ND 2/60 CF - -
11 Q7 24/M P 1011/PE ND CF 6/24 - - A - NMD - Haryana
12 Q8 11/M P PE/PE ND CF 1/60 - - P - NMD - U.P.
13 Q9 14/M A PE /994 ND 6/60 2/60 - - P - NMD - Orissa
14 Q10 34/M P PE/PE ND 1/60 6/60 - - A - NMD - U.P.
16 Q12 4/M P PE/PE ND Seeing+Fixing Seeing+Fixing - - P 9 c.1156T>C Cys386Arg Haryana
17 Q13 22/M A 838/PE ND CF CF - - A - NMD - U.P.
18 Q14 9/M P PE/1023 ND 6/24 6/60 - - P - NMD - J&K
19 Q15 20/F P PE/PE ND CF 6/36 - - P 9 c.1156T>C Cys386Arg U.P.
20 16/F P 920/PE ND CF 1/60 - -
21 Q16 7/F P PE/1008 ND 3/60 3/60 - - A 16 c.2470G>A Val824Met Punjab
22 Q17 8/M P PE/987 ND 1/60 1/60 - - A - NMD - Delhi
23 Q18 21/M A PE/PE 18 6/24 CF ED+ DMT Graft rejection A - NMD - U.P.
24 Q19 4/M P PE/PE ND Seeing+Fixing Seeing+Fixing - - A - NMD - Bihar
25 Q20 12/F P PE/PE ND 2/60 4/60 - - P 18 c.2470G>A Val824Met U.P.

PK-Penetrating keratoplasty, P- Present, A- Absent, F- Female, M- male, ND-Not Done, ED- endothelial degeneration, DMT- Descemet Membrane Thickening, NMD - No mutation Detected, UP- Uttar Pradesh, J & K- Jammu & Kashmir, IOP-Intraocular pressure, CCT- Central corneal thickness, BCVA-Best corrected visual acuity after keratoplasty, RE-Right eye, LE-Left Eye, F/up period- follow up period, PE-Error on pachymetry.

Paliwal, Mol Vis 2010; 16:2955-2963. http://www.molvis.org/molvis/v16/a318

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