Table 1.

Summary of ocular phenotype of affected individuals

Patient	IV:1		IV:2		IV:3
Clinical feature	Left eye	Right eye	Left eye	Right eye	Left eye	Right eye
Globe size	Normal	Normal	Small corneal diameter	Normal	Normal	Normal
Iris	Coloboma	Coloboma	Normal	Normal	Coloboma	Coloboma
Retina	Coloboma	Coloboma	Coloboma involving macula	Normal	Coloboma	Coloboma
Optic disc	Coloboma	Coloboma	Coloboma	Normal	Coloboma	Coloboma
Lens	Normal	Dislocated	Cataract	Normal	Mild cataract	Normal
Electroretinogram	Normal	Normal	Normal	Normal	Normal	Normal
Visual-evoked potential	Poor	Moderate	No response	Good	Poor	Good
Nystagmus	Yes	Yes	Yes	No	Yes	Yes
Squint	Convergent	No	Convergent	No	Divergent	No
Visual acuity (LogMAR)	1.0	0.54	Hand movements only	0.16	1.0	0.56