TABLE 2.
Summary of Major Genetic Studies on RP and related diseases in Pakistani families.
| Phenotype | Methods used | Associated gene/Locus | Authors |
|---|---|---|---|
| ARRP | Homozygosity and linkage mapping, gene prediction and transcript analysis | RP25/EYS/6q | Khaliq et al., 1999, Collin et al., 2008 |
| Usher Syndrome Type 1F | Linkage analysis, physical mapping and sequencing | PCDH15/USH1F | Ahmed et al. (2001) |
| ARRP | Linkage analysis | RP29 (4q32-34) | Hameed et al. (2001) |
| ARRP | Linkage analysis and sequencing | RP1/8q11 | Khaliq et al. (2005) |
| Oguchi disease | Linkage analysis and sequencing | 13q34/GRK1 (rhodopsin kinase) | Zhang, Zulfiqar, Riazuddin et al. (2005) |
| ARRP | Linkage and homozygosity mapping | RP32/CLCC1 (1p13-21) | Zhang, Zulfiqar, Xiao et al. (2005) |
| Whole exome sequencing | Li et al. (2018) | ||
| ARRP with mental retardation | Linkage analysis and sequencing of candidate genes | CC2D2A/4p15.33-p15/ | Noor et al. (2008) |
| Usher Syndrome type 1J | Linkage mapping; sequencing of candidate genes | CIB2/USH1J (15q22-23) | Riazuddin et al. (2012) |
| ARRP | Linkage analysis | 2p22.3-p24.1 | Naz et al. (2010) |
| ARRP | Homozygosity and linkage analysis; sequencing | USH3/CLRN1 (Clarin 1) | Khan et al. (2011) |
| Usher Syndrome type 1K | Linkage mapping | USH1K/10p11.21-q21.1 | Jaworek et al. (2012) |
| ARRP | Homozygosity mapping, exome sequencing | DHX38/chr 16 | Ajmal et al. (2014) |
| CRD | Exome sequencing | CNGA3 | Shaikh et al. (2015) |
The Table lists several studies on retinal dystrophies in Pakistani families in which novel loci were mapped and/or identified.