Biallelic pathogenic variants of forkhead transcription factor FOXE3 are associated bilateral microphthalmia and coloboma, typically in non-syndromic patients; a recent study of 102 individuals found only 8% displayed extraocular features, including global developmental delay and autism.10 27 31 Systemic features were more commonly found in patients with truncating DNA changes; however, sensorineural hearing loss and kidney anomalies have not previously been reported. This evidence concerns the gene FOXE3 and microphthalmia.