Table 1. Ocular phenotypes in p.Asp123Gly SOX2 family members.

Patients	Eye morphology	Anterior Segment	Fundus	Visual acuity and refraction
I.2	Bilateral microphthalmia	Posterior embryotoxon, shallow anterior chambers		6/12	6/9
				R hypermetropia and astigmatism L mild myopia
II.1		L iris stromal thinning		6/6	6/6
				+2.25	+2.25
				Hypermetropia
II.4		Bilateral microcornea		6/5	6/6
II.5	R severe microphthalmia, eye enucleated L microphthalmia		L optic nerve hypoplasia	NA	6/6
II.9	R severe microphthalmia, eye enucleated	L microcornea and inferior pupil defect	L tilted optic disc	NA	6/9
III.1		Bilateral iris colobomata	Bilateral chorioretinal colobomata	6/7.5	6/9
III.3			L inferior retinal tuft	6/9	6/6
				+0.75	+1.25
				and bilateral astigmatism, hypermetropia
IV.1				6/9	6/9
				+2.25	+2.25
				Hypermetropia
IV.2	Bilateral anophthalmia			NA

NA, not applicable because of eye enucleation or severe microphthalmia.