Molecular Vision: Li, Mol Vis 2021; 27:309-322. Table 2

Table 2. Clinical data of four novel probands with heterozygous GJA1 PPVs.

Family ID	Clinic	NM_000165	NM_000165	Gen-	Age at	BCVA		Cornea diameter (mm)		ACD  (mm)		IOP (mmHg)		AL  (mm)
	diagnosis	Change	Effect	der	exam	OD	OS	OD	OS	OD	OS	OD	OS	OD	OS
10,651-II:2	ODDD, MC	c.124G>C	p.E42Q	M	7 years	0.2	0.2	7.5	7.5	NA	NA	18.0	18.0	NA	NA
10,779-II:4	MC, G	c.738_739delTT	p.Y247Pfs*60	M	39 years	1.2	0.1	8.0	8.0	2.00	2.00	43.0	70.7	NA	NA
10,779-II:4^§	MC, G	c.738_739delTT	p.Y247Pfs*60	M	49 years	CF	0.4	8.0	8.0	2.00	2.00	13.0	18.0	NA	21.2
4371-II:1^§	MC, G	c.791_792delAA	p.K264Ifs*43	M	37 years	0.5	0.8	9.0	9.0	1.85	2.26	39.7	15.7	NA	NA
5395-II:2	PHH	c.890_892delCTT	p.S297del	F	7 years	1.0	1.0	11.9	11.9	2.88	NA	NA	NA	21.1	21.4

Note: ACD=anterior chamber depth, IOP=intraocular pressure, BCVA=best corrected visual acuity, AL=axial length, M=Male, F=Female, NA=Not available. CF=count finger, VFD=visual field defect, ODDD=oculodentodigital dysplasia, MC=microcornea, G=glaucoma, PHH=high hyperopia, yrs=years old. §, results of examinations were recorded after treatment; patient 10,779 undertook surgery for glaucoma treatment twice at the age of 39 and 43 years old. §, patient 4371 undertook surgery for glaucoma treatment at the age of 24 years old.