Cone-Rod Dystrophy: Ocular Genetic Studies

Cone/Cone-Rod Dystrophy (CD/CRD) constitutes a group of rare inherited retinal disorders characterized by predominant cone cell involvement, with subsequent rod cell degeneration in the later stages of the disease (in the CRD subgroup). In most cases, symptoms manifest within the first decade of life, typically presenting as central vision loss, color vision impairment, and photophobia—findings associated with cone dysfunction. Additionally, night blindness related to rod involvement may emerge in the later stages, which can complicate the differential diagnosis. Although more than 30 genes have been implicated in the pathogenesis of the disease, the correlation between genetic background and clinical presentation remains unclear in a significant portion of patients. This genetic heterogeneity continues to pose a major challenge in both diagnosis and treatment and highlights the necessity for individualized therapeutic approaches. The fact that there is still no proven treatment reiterates the necessity of a multidisciplinary approach with various fields of ophthalmology to use the quality of life and visual ability more efficiently in these cases, and it is of critical importance not to skip this treatment step for visual aid to the patients in this process. This review aims to summarize and present the clinical features, genetic basis, diagnostic methods, existing and expected treatment strategies of CD/CRD.