Table 3. Mutations identified in LCA families and the arRP family.
| S.No | Family ID | Genes Screened | Exon/intron | Mutation identified | Predicted change in protein | Effect of identified sequence variations |
|---|---|---|---|---|---|---|
| 1. | LCA-1 | RPE65 | intron 8 | c.858+1G>T Reported [55] | (r.spl?) | Pathogenic |
| 2. | LCA-2 | CRB1 | Exon 9 | c.3307G>A Reported [47, 56] | p.(Gly1103Arg) | Pathogenic |
| 3. | LCA-3 | GUCY2D | Exon 3 | c.994delC Novel | p.(Arg332Alafs*63) | Pathogenic |
| 4. | LCA-4 | IQCB1 | intron 12 | c.1278+6T>A Novel | r.[1131_1278 del,1131_1278del] p.(Gln378Alafs*2) | Pathogenic |
| 5. | LCA-5 | AIPL1 | Exon 6 | c.834G>A Reported [35, 53, 57–60] | p.(Trp278*) | Pathogenic |
| 6. | LCA-6 | RPGRIP1 MERTK | - | Not identified | - | - |
| 7. | LCA-8 | AIPL1 | Exon 2 | c.247G>A Novel | p.(Glu83Lys) | Pathogenic |
| 8. | LCA-9 | RPE65 | Exon 13 | c.1409C>TReported [32] | p.(Pro470Leu) | Pathogenic |
| 9. | LCA-10 | AIPL1 | Exon 4 | c.613_622 delATCATCTGCC Novel | p.(Ile205*) | Pathogenic |
| 10. | LCA-11 | SPATA7 | intron 7 | c.913-2A>G Novel | (r.spl?) | Pathogenic |
| 11. | arRP1 | MERTK | Exon 4 | c.721C>T Novel | p.(Gln 241*) | Pathogenic |
| 12. | LCA-7 | RPGRIP1R DH12 | RDH12 intron 3 | c.344-8C>TNovel | (r.spl?) | Possibly pathogenic |