Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

Table 1

Clinical information of patients from three families.

	Patient	BCVA (R/L); LogMAR	Type of cataracts	Age of removal of cataract	IOL vs. aphakia	Fundus anomalies	Refractive error at age examined (R/L)	Nystagmus	Strabismus subtype
Family A	III.1	1.0/1.0	Bilateral complete cataract	2 months	IOL	No	+6.00DS/-2.00DC×10, +5.50DS/-1.00DC×140	Ophthalmic nystagmus	Esotropia
	II.1	1.3/1.0	Bilateral complete cataract	2 years	IOL	No	+1.00DS/-0.50DC×60, −2.250DS/-1.00DC×80	Ophthalmic nystagmus	Esotropia
	I.1	1.7/1.6	Bilateral complete cataract	2 years	aphakia	Optic atrophy	+19.00DS/-0.50DC×60, +22.50DS/-1.50DC×30	Ophthalmic nystagmus	Esotropia
Family B	III.1	1.0/0.7	Bilateral nuclear cataract	2 months	IOL	No	NA	No	No
	II.1	0.4/0.7	Bilateral nuclear cataract	2 years	IOL	No	+2.00DS/-1.50DC×170, +1.50DS/-1.50DC×110	No	No
	I.1	0.7/1.0	Bilateral nuclear cataract	4 years	IOL	No	+5.00DS/-1.75DC×50，+5.50DS/-1.00DC×110	No	No
Family C	III.3	1.0/1.0	Bilateral nuclear cataract	3 years	IOL	No	+4.50DS/-1.00DC×5，+6.00DS/-2.00DC×160	Ophthalmic nystagmus	Esotropia
	II.2	0.5/0.4	Bilateral nuclear cataract	5 years	IOL	No	+1.25DS/-0.75DC×130, +2.00DS/-1.50DC×90	Ophthalmic nystagmus	Esotropia
	I.2	1.7/1.6	Bilateral nuclear cataract	6 years	aphakia	No	+17.00DS/-2.00DC×95, +18.50DS/-1.00DC×60	Ophthalmic nystagmus	Esotropia
	II.1	0.7/1.0	Bilateral nuclear cataract	4 years	IOL	No	−0.50DS/-1.50DC×30，+1.50DS/-2.00DC×70	No	No
	III.1	1.0/1.0	Bilateral nuclear cataract	4 years	IOL	No	+1.75DS/-0.75DC×180, +2.00DS/-1.75DC×90	No	No

BCVA: best-corrected visual acuity. The best-corrected visual acuity was measured and calculated with the EDTRS visual acuity chart and represented with logMAR. Snellen equivalent is shown in the text. Bilateral nuclear cataract in family B has more opacity in the lens nucleus, while bilateral nuclear cataract in family A has less opacity. IOL: intraocular lens. NA: not acquired. NO: not found; R: right; L: left.