Patient | Right and Left Eye Findings | Additional features | Next generation coding sequence alterations verified by Sanger sequencing in this study |
---|---|---|---|
ANOP1 | Â | Â | Â |
792-505 | Anophthalmia | - | - |
792-508 | Anophthalmia | Feeding disorder | c.313C > T → p.Glu105X in OTX2 |
792-526 | Anophthalmia | Learning disabilities | - |
792-539 | Anophthalmia | Asperger syndrome | - |
792-542 | Microphthalmia, coloboma, cyst | - | c.24C > G → p.Leu8Leu in GDF6 c.618C > G (Hz) → p.Ala206Ala in FOXE3 |
792-570 | Anophthalmia/Microphthalmia, microcornea, lens opacification | - | c.601 G > A → p.Val201Met in FOXE3 |
792-601 | Microphthalmia, chorioretinal colobomas | Hydrocele | - |
09-122 | Anophthalmia | - | c.542delC → p.Pro181Argfs*22 in SOX2 |
ANOP2 | Â | Â | Â |
792-056A | Microphthalmia | Pervasive developmental disorder | - |
792-518 | Microphthalmia | Hamartoma tuber cinereum | c.124 G > A → p.Glu42Lys in CRYBA4 [c.70del20 in SOX2 ] |
792-530 | Anophthalmia | Learning disabilities, Arnold-Chiari malformation | - |
792-531 | Anophthalmia | - | c.871 G > A → p.Asp291Asn in VSX2; [c.67-69dupGGC in SOX2 ] |
792-548 | Microphthalmia | - | - |
792-563 | Microphthalmia | Arnold-Chiari malformation | c.720C > A (Hz) → p.Cys240X in FOXE3 |
792-572 | Anophthalmia | Learning disabilities, autistic behavior | c.520 G > A (Hz) → p.Ala174Thr in FOXE3 |