Document Type : Review
Authors
1
Countess of Chester Hospital, Chester, UK
2
Clinical Research Development Unit, Ghaem Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
3
Department of Medical Laboratory Sciences, Khomein University of Medical Sciences, Khomein, Iran
4
Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
5
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
6
Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
10.22038/rcm.2026.87432.1539
Abstract
Inherited retinal diseases (IRDs) are significant causes of legal blindness in some working-age adults. Among these conditions, cone-rod dystrophies (CRDs) are characterized by the progressive loss of cone and rod photoreceptors, leading to visual impairment. The pathogenesis of CRDs is multifactorial and often involves genetic mutations in proteins critical for phototransduction, photoreceptor maintenance, and cellular homeostasis within the retina. Over time, photoreceptors deteriorate, resulting in decreased visual acuity, color vision abnormalities, and, in some cases, night blindness. The diagnosis of CRDs requires a comprehensive approach that includes clinical evaluation, electrophysiological testing, and advanced imaging modalities such as optical coherence tomography (OCT). Current treatments are primarily supportive, focusing on the management of visual symptoms and the enhancement of patients’ quality of life. Emerging therapies, including gene therapy, retinal implants, and regenerative medicine, show promise for slowing or reversing disease progression. Low vision aids, environmental modifications, and regular monitoring remain essential components of CRD management. Identifying the genetic variants responsible for CRDs enables personalized counseling and may facilitate the development of targeted, gene-specific interventions. This review summarizes recent advances in the epidemiology, molecular mechanisms, and therapeutic strategies for CRDs, providing updated insights into diagnosis and long-term care. By analyzing these developments, we aim to guide both clinical practice and research toward novel interventions that could preserve or restore vision in affected individuals.
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