Table 1.

Clinical characteristics of the seven patients in this Chinese Han family

Patients	Age, y	Gender	Eye	BCVA	IOP, mmHg	Keratopathy	Aniridia	Nystagmus	Crystalline lens	Glaucoma
I:2	96	F	OD	LP	13	+	+	+	Cataract, Dislocation	–
			OS	LP	15	+	+	+	Cataract, Dislocation	–
II:2	68	M	OD	20/200	15	+	+	+	Absencea	–
			OS	HM	17	+	+	+	Absence	–
II:4	64	F	OD	LP	16	+	+	+	Absence	+
			OS	20/200	14	–	+	+	Absence	+
II:6	61	F	OD	20/160	13	–	+	+	Absence	–
			OS	20/120	15	–	+	+	Absence	–
III:3	37	M	OD	HM	22	+	+	+	IOL	+
			OS	HM	23	+	+	+	IOL	+
III:5	34	F	OD	20/120	15	+	+	+	IOL	–
			OS	20/200	16	–	+	+	Cataract	–
IV:2	12	F	OD	20/80	13	–	+	+	Cataract	–
			OS	20/100	11	–	+	+	Cataract	–

M male, F female, OD the right eye, OS the left eye BCVA best corrected visual acuity; LP light perception, HM hand movement, IOP intraocular pressure, IOL Intraocular lens. All of the other family members have complete iris, without nystagmus or other major eye diseases, and thus are not listed in the table

^aAbsence means the patients had history of phacoemulsification