Table 2.
Ocular phenotypes of 6p25 copy number variation families
| Pedigree no. | Phenotype | Location and reference(s) |
|---|---|---|
| 1 | Iris hypoplasia and glaucoma | Canada (66,68,69) |
| 2 | Iris hypoplasia and glaucoma | Canada |
| 3 | Iris hypoplasia and glaucoma | UK (27) |
| 4 | Iris hypoplasia and glaucoma | UK |
| 5 | Iris hypoplasia and glaucoma | UK (16) |
| 6 | Iris hypoplasia and glaucoma | Canada (68,69) |
| 7 | Iris hypoplasia and glaucoma | UK (27,66) |
| 8 | Axenfeld–Rieger Syndrome and glaucoma | UK (22,27) |
| 9 | Axenfeld–Rieger Syndrome and glaucoma | Canada |
| 10 | Ocular developmental anomalies | USA |
| 11 | Anterior segment dysgenesis | UK |
The ancestral origin of #1, 2 and 6 is from the UK; #10’s ocular phenotype cannot be fully determined at present due to this infant's age.