Table 2

Summary of mutations identified and corresponding phenotypes

Index case no.	Age at ascertainment	Mutated gene	Mutation detected (cDNA/protein effect)	Ocular phenotype	Extraocular anomalies
2	11 months	SOX2	c.70del120/prematurely truncated protein	Bilateral anophthalmia	Corpus callosum partial agenesis, ventricular brain dilatation
5	11 years	RAX	c.148a>c/T50P^*	Microphthalmia OD	Septum pellucidum agenesis,c ortical atrophy optic nerve atrophy OS
20	1 year	GDF6	c.746c>A/A249E	Bilateral microphthalmia	None
24	1 year	GDF6	c.460A>c/M154T^*	Bilateral anophthalmia	Phimosis
27	9 years	GDF6	c.746c>A/A249E	Bilateral microphthalmia	Cleft lip and palate
31	6 months	OTX2	c.265c>T/R89x^*	Bilateral anophthalmia	None
41	2 years	RAX	c.328c>G/R110G^*	Anophthalmia OD	Hydrocephalus, congenital hip dislocation
48	47 years	GDF6	c.746c>A/A249E	Bilateral nanophthalmia	None