Table 1 Clinical information of probands with homozygous TRPM1 deletion
Affected individual | Gender | Age of diagnosis | CSNB | Myopia | Strabismus | Nystagmus | |
---|---|---|---|---|---|---|---|
Family 1 | 1* | Male | 3 years | Yes | Yes | Esophoria | No |
2 | Female | 5 months | Yes | Yes | Esophoria | No | |
3 | Male | 5 months | Yes | Yes | Esophoria | No | |
Family 2 | 4* | Male | 10 months | Yes | Yes | Mild | No |
Family 3 | 5* | Female | 18 months | Yes | Yes | Esophoria | No |
Family 4 | 6* | Male | 6 months | Yes | Yes | Exotropia | No |
7 | Male | Na | icCSNBa | Yes | Exotropia | No | |
8 | Female | Na | Yes | Yes | Exotropia | No | |
9 | Female | Na | Yes | Yes | Exotropia | No | |
Family 5 | 10* | Male | 4 months | icCSNBa | Yes | Exotropia | No |
11 | Male | 6–12 months | icCSNBa | Yes | Exotropia | No | |
12 | Female | 6–12 months | icCSNBa | Yes | Exotropia | No | |
13 | Female | 6–12 months | icCSNBa | Yes | Exotropia | No | |
Family 6 | 14* | Male | 4 months | Yes | Yes | Esotropia | Yes |