Table 1.

Summary of clinical features observed in affected individuals in families 1–4 with OCA.

Family (ID)	Nystagmus	Hair colour	Eye colour	Other ocular features	Other systemic features
1 (X:1)	+	Blonde	Blue	Iris transillumination defects, depigmented fundus, foveal hypoplasia, alternating esotropia, optic disc hypoplasia	−
2 (X:2)	+	NA	NA	Blunted foveal reflex, depigmented fundus. ERG limited and awaiting a repeat	NA
3 (X:3)	+	Blonde	Blue	Iris transillumination defects blunted foveal reflex	−
3 (X:4)	+	Dark blonde	Blue	transillumination defects, foveal hypoplasia, strabismus	−
3 (X:5)	NA	Strawberry blonde	NA	Blunted foveal reflex	−
4 (IX:9)	+	Blonde	Blue	Pale fundi, iris transillumination defects, foveal hypoplasia, myopia, strabismus. Nyctalopia, photosensitivity and peripheral VF loss with normal ERG
4 (IX:10)	+	Pigmented	Blue	−	Mild learning difficulties
4 (IX:12)	+	Light brown	NA	−	−
4 (IX:14)	+	Dark brown	Blue	Pale fundi	−
4 (IX:15)	+	Pigmented	Blue	−	−
4 (IX:16)	+	NA	NA	NA	NA
4 (IX:20)	+	Blonde	Blue	−	−
4 (IX:22)	+	White/ blonde	Blue	−	−
4 (X:15)	+	Brown	Brown	Myopia	Neonatal intraventricular haemorrhage

The (+) and (−) symbols indicate the presence or absence of a feature in an affected subject, respectively.

ERG electroretinogram, NA information not available.