This high heterogeneity within the cohort urges extensive studies involving Pakistani families using comprehensive molecular diagnostic approaches to further explore genetic components to form a better understanding of disease mechanisms and identify founder mutations for the development of suitable treatment options [34].One interesting observation from this study was that two families carry the same novel SPATA7 pathogenic mutations, in contrast to the general reported rarity of mutations in SPATA7 as a cause of retinal dystrophy [35]. Here, SPATA7 is linked to inherited retinal dystrophy.