| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leber Congenital Amaurosis (LCA1, GUCY2D) | congenital cataract, keratoconus, nystagmus | Autosomal Recessive | 17p13.1 | Deletion | GUCY2D | 1573delC | Gln525Argfs*38 | Frame-shift creating premature stop codon | 0/Khan et al., 2014 |
| Leber Congenital Amaurosis (LCA1, GUCY2D) | Leber congenital amaurosis 1 | Autosomal Recessive | 17p13.1 | Substitution | GUCY2D | c.1171T>C | p.Cys391Arg | Misense | Zafar et al., 2025/2025 |
