Lastly, detection of rare forms of IRDs notably STX3-associated intestinal-retinal syndrome [103], VPS13B-associated Cohen syndrome [104], and SLC6A6-associated taurine transporter (TauT) deficiency disorders [105] in Pakistani families not only points towards the distinctive genetic nature of this population but it also highlights its potential in medical research. The gene discussed is SLC6A6; the disease is Cohen syndrome.