Table 1. Overview of the 37 cases with clinical diagnosis and most likely disease-causing variants.
| S. No. | Case No. | Year of birth | Gender | Clinical Diagnosis | Gene | Mutation (s) | Zygosity | HGMD Accession |
|---|---|---|---|---|---|---|---|---|
| 1 | 71134 | 1980 | M | Cone dystrophy | ABCA4 | NM_000350.2:c.5882G>A:p.Gly1961Glu; NM_000350.2:c.1804C>T:p.Arg602Trp | Compound Heterozygous | CM970016 and CM990025 |
| 2 | 71472 | 1975 | F | Retinitis pigmentosa | ABCA4 | NM_000350.2:c.4873C>T:p.His1625Tyr | Homozygous | This study |
| 3 | 71522 | 1990 | M | Cone dystrophy | ABCA4 | NM_000350.2:c.5882G>A:p.Gly1961Glu; NM_000350.2:c.5461–10T>C | Compound Heterozygous | CM970016 and CS057513 |
| 4 | 71674 | 2003 | F | Retinal dystrophy DD: Retinitis pigmentosa | ABCA4 | NM_000350.2:c.1988G>A:p.Trp663*; NM_000350.2:c.2160+1G>T | Compound Heterozygous | CM003370 and this study |
| 5 | 71876 | 1967 | F | Stargardt disease | ABCA4 | NM_000350.2:c.5381C>A:p.Ala1794Asp; NM_000350.2:c.2401G>A:p.Ala801Thr | Compound Heterozygous | CM990063 and CM070632 |
| 6 | 71927 | 1989 | F | Macular dystrophy | ABCA4 | NM_000350.2:c.5882G>A:p.Gly1961Glu; NM_000350.2:c.2041C>T:p.Arg681* | Compound Heterozygous | CM970016 and CM990029 |
| 7 | 71882 | 1989 | M | Stargardt disease | ABCA4 | NM_000350.2:c.6122G>A:p.Gly2041Asp; NM_000350.2:c.5882G>A:p.Gly1961Glu | Compound Heterozygous | CM087709 and CM970016 |
| 8 | 70052 | 1983 | M | Retinitis pigmentosa | C2orf71 | NM_001029883.1:c.1949G>A:p.Trp650* | Homozygous | This study |
| 9 | 71688 | 1967 | M | Retinitis pigmentosa | C2orf71 | NM_001029883.2:c.947del:p.Asn316Metfs*7; NM_001029883.2:c.1709_1728del:p.Gly570Glufs*3 | Compound Heterozygous | CD102940 and this study |
| 10 | 29870 | 1969 | F | Retinitis pigmentosa | C2orf71 | NM_001029883.2:c.1709_1728del:p.Gly570Glufs*3 | Homozygous | This study |
| 11 | 71703 | 1991 | M | Cone-rod dystrophy | C2orf71 | NM_001029883.2:c.2227_2228del:p.Leu744Glufs*7; NM_001029883.2:c.1709_1728del:p.Gly570Glufs*3 | Compound Heterozygous | This study |
| 12 | 71918 | 1983 | F | Retinitis pigmentosa | C2orf71 | NM_001029883.2:c.3002G>A:p.Trp1001* | Homozygous | CM113611 |
| 13 | 71471 | 2004 | F | Retinitis pigmentosa | RP1 | NM_006269.1:c.1625C>G:p.Ser542* | Homozygous | CM1211361 |
| 14 | 71728 | 1959 | M | Retinitis pigmentosa | RP1 | NM_006269.1:c.2613dup:p.Arg872Thrfs*2 | Heterozygous | CI004598 |
| 15 | 28865 | 1960 | M | Retinitis pigmentosa | RP1 | NM_006269.1:c.2613dup:p.Arg872Thrfs*2 | Heterozygous | CI004598 |
| 16 | 24058 | 1946 | F | Retinitis pigmentosa | RP1 | NM_006269.1:c.2613dup:p.Arg872Thrfs*2 | Heterozygous | CI004598 |
| 17 | 71192 | 1977 | M | Retinal dystrophy | RPGR | NM_001034853.1:c.2143_2144dup:p.Glu716Glyfs*100 | Hemizygous | This study |
| 18 | 71762 | 2000 | F | Retinitis pigmentosa | RPGR | NM_001034853.1:c.2008_2017del:p.Gln670Argfs*24 | Heterozygous | This study |
| 19 | 72007 | 1992 | M | Retinitis pigmentosa | RPGR | NM_001034853.1:c.2236_2237del:p.Glu746Argfs*23 | Hemizygous | CD004113 |
| 20 | 13730 | 1951 | F | Retinitis pigmentosa | CEP290 | NM_025114.3:c.2991+1655A>G; NM_025114.3:c.5668G>T:p.Gly1890* | Compound Heterozygous | CS064383 and CM061683 |
| 21 | 30421 | 2008 | M | Leber Congenital Amaurosis | CEP290 | NM_025114.3:c.2991+1655A>G; NM_025114.3:c.6604del:p.Ile2202Leufs*24 | Compound Heterozygous | CS064383 and CD072355 |
| 22 | 71315 | 2006 | M | Retinitis pigmentosa | FLVCR1 | NM_014053.2:c.1092 + 5G>A; NM_014053.2:c.479T>C:p.Leu160Pro | Compound Heterozygous | CS140551 and this study |
| 23 | 29303 | 1979 | F | Retinitis pigmentosa | FLVCR1 | NM_014053.2:c.1092 + 5G>A | Homozygous | CS140551 |
| 24 | 71133 | 2011 | F | Leber Congenital Amaurosis | CRB1 | NM_201253.2:c.2230C>T:p.Arg744* | Homozygous | This study |
| 25 | 71161 | 2009 | F | Leber Congenital Amaurosis | CRB1 | NM_201253.2:c.547T>C:p.Cys183Arg; NM_201253.2:c.2687G>C:p.Cys896Ser | Compound Heterozygous | This study |
| 26 | 70946 | 1980 | F | Best macular dystrophy | BEST1 | NM_001139443.1:c.404C>T:p.Ala135Val | Homozygous | CM004430 |
| 27 | 70559 | 1991 | M | Best macular dystrophy | BEST1 | NM_001139443.1:c.548C>T:p.Ala183Val | Heterozygous | CM000841 |
| 28 | 71583 | 1971 | F | Retinal dystrophy | FAM161A | NM_001201543.1:c.1807G>T:p.Glu603* | Homozygous | This study |
| 29 | 71749 | 1990 | F | Retinitis pigmentosa | USH2A | NM_206933.2:c.15020C>T:p.Pro5007Leu; NM_206933.2:c.8522G>A:p.Trp2841* | Compound Heterozygous | This study |
| 30 | 30806 | 1998 | F | Bardet-Biedl Syndrome | BBS2 | NM_031885.3:c.1237C>T:p.Arg413*; NM_031885.3:c.241G>T:p.Gly81Cys | Compound Heterozygous | CM033336 and CM114523 |
| 31 | 27419 | 1992 | M | Usher syndrome | HARS | NM_002109.5:c.410G>A:p.Arg137Gln; NM_002109.5:c.262G>A:p.Gly88Ser | Compound Heterozygous | CM130192 and this study |
| 32 | 25939 | 1978 | M | Retinitis pigmentosa | PDE6B | NM_000283.3:c.810C>A:p.Cys270*; NM_000283.3:c.811G>A:p.Glu271Lys | Compound Heterozygous | CM962548 and this study |
| 33 | 71868 | 2003 | M | Retinitis pigmentosa DD: Retinal dystrophy | RDH12 | NM_152443.2:c.193C>T:p.Arg65*; NM_152443.2:c.806_810del:p.Ala269Glyfs*2 | Compound Heterozygous | CM054831 and CD042224 |
| 34 | 71808 | 1960 | M | Retinitis pigmentosa | EYS | NM_001292009.1:c.8713T>G:p.Cys2905Gly; NM_001292009.1:c.8269G>C: p.Ala2757Pro | Compound Heterozygous | This study |
| 35 | 71094 | 1974 | M | Cone-rod dystrophy | PROM1 | NM_006017.2:c.380G>A:p.Gly127Glu | Homozygous | This study |
| 36 | 71718 | 1983 | F | Stargardt disease | ELOVL4 | NM_022726.3:c.810C>G:p.Tyr270* | Heterozygous | CM045143 |
| 37 | 71780 | 1979 | M | Macular dystrophy | RP1L1 | NM_178857.5:c.1138G>A:p.Gly380Arg | Heterozygous | This study |
DD: Differential diagnosis.