Table 1 of Wheeldon, Mol Vis 2008; 14:1503-1512.

Table 1. Summary of clinical presentation and results of investigations within the pedigree.



Individual
TGFBI
genotype		 Current clinical status
(determined by symptoms/
slit lamp examination)

Sex		 Current
age
(years)		 Age at
onset
(years)		 BCVA pre-treatment (PTK/PKP)
Tissue
diagnosis

PTK		 Age at corneal graft Recurrence
in graft
OD OS OD OS
I:1 Wt/wt Not affected M 95 - - - - - - - -
II:1 wt/H626P Affected M 66 9 39623
Yes No 61 44 Yes OU.
II:2 Wt/wt Not affected F 63 - - - - - - - -
III:1 wt/H626P Affected M 35 12 17685 17685 Yes No 35 34 No
III:2 wt/H626P Affected F 33 11 37428
Yes OD No 19 Trauma graft
III:3 Wt/wt Not affected M 32 - - - - - - - -
III:4 wt/H626P Affected M 30 8 Not known Not known No OU No No N/A
III:5 wt/H626P Affected M 26 11 37063
Yes OD No 15 Failed graft
III:6 wt/H626P Affected M 20 11 37425 22068 No OU No No N/A
III:8 wt/wt Affected (PPCD) M 37 14 39605 39605 No No No No N/A
IV:1 wt/wt Not affected F 2 - - - - - - - -
IV:2 wt/wt Not affected M 10 - - - - - - - -
IV:3 wt/H626P Not affected F 3 - - - - - - - -
IV:4 wt/H626P Not affected F 3 - - - - - - - -
IV:5 wt/H626P Not affected F 3 - - - - - - - -

Current clinical status refers to presence of symptoms and/or signs. OD=right eye, OS=left eye, OU=both eyes, wt=wild type, wt/H626p=individual with mutation, BCVA=best corrected visual acuity, PPCD=Posterior polymorphous corneal dystrophy, PTK=excimer laser phototherapeutic keratectomy, PKP=penetrating keratoplasty, M=male, F=female, N/A=not applicable. Information that is not provided about clinically unaffected individuals is marked with a dash (-).

Wheeldon, Mol Vis 2008; 14:1503-1512. http://www.molvis.org/molvis/v14/a179

©2008 Molecular Vision http://www.molvis.org/molvis/

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