TABLE 1.
Ocular findings in 19 patients with structural eye defects, together with exome results
| Patient | Sex | Consanguinity | Eye phenotype: coloboma | Eye phenotype: globe | Eye phenotype: other | Extraocular findings | Gene variants discussed in text |
|---|---|---|---|---|---|---|---|
| EG14_1 | M | No | Iris; Chorioretina | L microphthalmia; microcornea | L retinal detachment; L cataract | Nephrotic syndrome | |
| EG15_1 | F | Yes; degree unspecified | Chorioretina; Optic nerve | R microphthalmia; microcornea | Retinal dystrophy; L syneresis; cataract; microspherophakia | Hearing loss | |
| EG16_1 | M | first cousins | Iris; Chorioretina | L microphthalmia | Cataract; syneresis | – | TENM3 c.886T>G:p.(Phe296Val) |
| EG17_1 | M | first cousins | Chorioretina; Optic nerve | R microphthalmia; microcornea | – | – | |
| EG18_1 | F | first cousins | Iris; Chorioretina; Optic disc | R microphthalmia; microcornea | – | Global delays | |
| EG20_1 | M | first cousins | Iris; Chorioretina; Optic nerve | Microphthalmia; Microcornea | R retinal dystrophy | – | |
| EG21_1 | F | first cousins | Iris; Chorioretina; Optic nerve | – | – | – | IQGAP1 c.2524A>C:p.(Ile842Leu) |
| EG22_1 | F | first cousins | Iris; Chorioretina; Optic nerve | L microphthalmia; microcornea | R retinal dystrophy | – | WNT2B c.802C>T:p.(Arg268Cys) |
| EG25_1 | F | No | Iris; Optic nerve | Microcornea | Retinal dystrophy | Hearing loss; Anterior glottic web | POLR2A c.2887C>T: p.(Arg963Trp) |
| EG26_1 | M | Yes; degree unspecified | Iris; Chorioretina; Optic nerve | – | – | – | |
| EG28_1 | M | No | Chorioretina; Optic nerve | – | – | – | LRP6 c.1031T>C:p.(Leu344Ser) |
| EG29_1 | F | first cousins | Iris; Chorioretina; Optic disc | Microcornea | R retinal dystrophy | – | |
| EG37_1 | M | second cousins | Iris; Chorioretina; Optic nerve | Microphthalmia; microcornea | Retinal dystrophy; R syneresis; Cataract | – | CDON c.863A>G:p.(Tyr288Cys) |
| EG38_1 | F | first cousins | Iris; Chorioretina | – | – | – | KIF26B c.2285G>A: p.(Arg762Gln) |
| EG40_1 | M | first cousins | Chorioretina | R microphthalmia; microcornea | Cataract; lens subluxation; microspherophakia | – | MICU1 c.886T>G:p.(Phe296Val) |
| EG41_1 | M | first cousins | Chorioretina; Optic disc | L microphthalmia; icrocornea | R retinal dystrophy | – | |
| EG42_1 | F | first cousins | Iris; Chorioretina; Optic nerve | L microphthalmia; microcornea | – | – | |
| EG46_1 | M | No | Iris | L microphthalmia | R retinal dystrophy | ||
| EG47_1 | F | first cousins | Iris; Chorioretina; Optic nerve | – | – | Cleft lip |