Molecular Vision: Paliwal, Mol Vis 2010; 16:1429-1438. Table 2

Table 2. Transforming growth factor beta induced (TGFBI) mutations seen in the present study. The table shows the identified mutations and the associated phenotypic features seen in our patients. These mutations have been previously reported and documented [1]. F- Female; M- Male; FCCF-Finger Counting Close to Face; FC1/2m-Finger Counting from half a meter; FC1/4m-Finger Counting from a quarter of a meter; MT- Masson Trichrome; CR-Congo Red; NR- Not Recorded, PL-Perception of Light. R>L*- right eye affected to a greater extent than the left eye, p-partial, P- present, A- absent.

Sample number	Family Number	Mutation Segregation	Phenotype	Age/ sex	Age at onset	Corneal erosion	Visual acuity	Corneal pachymetry		Histology		Mutation detected	*Exon of TGFBI* affected**	cDNA position
1	16.1	Son	Stromal opacities up to half to two-thirds depth, Focal and refractile lines.	18/M	15	P	6/9	6/9	571	595	-	A546D	12	c.1637C>A
2	16.2	Mother	Polymorphic opacities combined with lattice like lines extending to periphery and central cornea	43/F	36	P	6/9p	6/12p	521	463	-	A546D	12	c.1637C>A
3	39.1	Sporadic case	Multiple opacities coalescing into one, affecting Bowmans layer and anterior stroma	70/M	40	P	6/36	PL-ve	549	540	MT +ve	R124L	4	c.371G> T
4	20.1	Sporadic case	Thick, ropy lattice lines in the anterior stroma.	24/M	19	P	FC1/2m	5/60	566	403	CR +ve	T538P	12	c.1612A>C
5	69.1	Father	discrete disc and ribbon like opacities in the anterior stroma	50/M	30	A	6/9	6/9	-	-	-	R124H	4	c.367G>C
6	69.2	Daughter	Discrete ring- and crumb-shaped opacities distributed in a radiating pattern in the anterior stroma of both eyes	19/F	15	A	6/6	6/6	-	-	-	R124H	4	c.367G>C
7	155.1	Mother	Discrete rings, crumbs, and a few ray-like, linear, gray-white opacities in the anterior axial corneal stroma	53/F	40	P	6/9	6/9	494	484	-	R124H	4	c.367G>C
8	155.2	Daughter	Discrete rings, crumbs, and a few raylike, linear, gray-white opacities in the anterior axial corneal stroma R>L	32/F	22	A	6/12	6/9	521	519	-	R124H	4	c.367G> C
9	155.3	Son	Unilateral presentation with a single discrete opacity in the right eye	28/M	NR	A	6/6	6/6	495	490	-	R124H	4	c.367G> C
10	134.1	Son	Thick lattice lines in deep stroma, L>R	52/M	50	P	6/6	6/18	561	565	-	H626R	14	c.1877A>G
11	134.2	Mother	Thick lattice lines extending toward the periphery R>L	78/F	59	P	FCCF	FC1/4m	553	558	-	H626R	14	c.1877A>G