| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Primary Congenital Glaucoma ( LTBP2) | Primary Congenital Glaucoma (PCG) | Autosomal Recessive | 14q24.3 | Delation | LTBP2 | c.3427delC | p.Gln1143Argfs*35 | Frameshift | Rauf et al., 2022/2022 |
