The complex process of normal eye development during the first trimester of pregnancy involves multiple genes. Mutations in these genes can lead to serious eye conditions. Ophthalmic genetics is a rapidly growing field globally, addressing the impact of ethnic diversity and consanguinity on the prevalence of genetic disorders. Inherited retinal disease (IRD) is a leading cause of working-age blindness. Advances in molecular genetics, including focused gene panels and next-generation sequencing, have expedited molecular diagnosis. Enhanced ocular imaging and visual function tests provide insights into natural history, crucial for evaluating potential IRD treatments in clinical trials.