Table 2.
Monozygotic twins | JOAG patient | |
---|---|---|
Segregating with disease | ||
Total variants | n=548 | n=695 |
Glaucoma associated | n=1 (NF1 gene)* | n=1 (PAX6 gene)** |
Nonsegregating with disease | ||
Total variants | n=2174 | n=1195 |
Glaucoma associated | n=0 | n=1 (OPTN gene)*** |
*NF1 (neurofibromin 1) gene, rs191111884 an intronic variant (ClinVar: Benign). **PAX6 (paired box 6) gene, rs759391101 an inframe deletion (ClinVar: Benign). ***OPTN (optineurin) gene, rs71492279 an intronic variant (ClinVar: Benign)