Summary of the identified pathogenic mutations in LCA patients in this study.

<p><b>S.No.1</b>–<b>5:</b> Mutations identified by direct sequencing analysis of <i>RPE65</i>.</p><p><b>S.No.6</b>–<b>11:</b> Mutations identified in Asper chip analysis and confirmed by direction sequencing.</p><p>Nucleotide numbering represents cDNA numbering with +1 corresponding at the start of the coding sequence (i.e. from the first A of the translation initiation codon, ATG) in the reference sequence according to nomenclature guidelines (<a href="http://www.hgvs.org/mutnomen" target="_blank">www.hgvs.org/mutnomen</a>).</p><p>RPE65 c.361del T mutation was identified in two index LCA cases (LCA51–1 and LCA72–1).</p><p>GUCY2D c.3118 C>G mutation was identified in two index LCA cases (LCA55–1 and LCA87–1).</p><p>Patient LCA68–1 was found to be with single heterozygous RPE65 mutation which alone may not be conclusive to explain the LCA phenotype.</p><p>Patient LCA53–1 carried heterozygous CRX mutation along with homozygous IQCB1 mutation; both together can sufficiently explain the LCA phenotype.</p><p>SIFT score ranges from 0 to 1; value between 0.00–0.05 is considered deleterious.</p><p><b>Abbreviation:</b> HOM- Homozygous, HET- Heterozygous, FS- Frame Shift, NA-Not applicable.