Table 1. Clinical features of patients in groups I and II.
| Group number | Patient/status | Best corrected vision (OD/OS) | IOP | Nystagmus | Arinidia | Congenital cataract | Coloboma of choroid | Microphthalmos | PAX6 mutation |
|---|---|---|---|---|---|---|---|---|---|
| I | A1/II-1 | 0.1/0.2 | 13/15 | S | C | Yes | No | No | p.Ser119fsX32 |
| P1/sporadic | 0.1/0.1 | 14/16 | S | C | Yes | No | No | PAX6 deletion | |
| P2/sporadic | 0.05/0.06 | 17/14 | S | C | Yes | No | No | p.Ser4AsnfsX21 | |
| P3/sporadic | 0.1/0.1 | 21/18 | S | C | Yes | No | No | p.W156X | |
| II | A2/II-3 | HM/0.2 | 15/16 | No | P | Yes | Yes | No | Not detected |
| A3/III-2 | 0.05/0.8 | 17/15 | No | P | Yes | Yes | No | Not detected | |
| P4/sporadic | 0.8/0.9 | 14/12 | No | P | Yes | Yes | No | Not detected | |
| P5/sporadic | 0.25/1.2 | 13/13 | No | P | Yes | Yes | No | Not detected | |
| P6/sporadic | 0.1/0.1 | 10/12 | S | P | Yes | Yes | Yes | Not detected | |
| P7/sporadic | 0.1/0.1 | 13/12 | S | P | Yes | Yes | Yes | Not detected | |
| P8/sporadic | 0.05/HM | 15/15 | S | P | Yes | Yes | Yes | Not detected | |
| P9/sporadic | 0.2/0.1 | 18/16 | S | P | Yes | Yes | Yes | Not detected |
Abbreviations: C, complete; HM, hand move; IOP, intraocular pressure; OD, right eye; OS, left eye; P, part; S, sever.