Unraveling the Tapestry of Syndromic Cone‒Rod Dystrophies: Navigating the Complexities of Sight and Beyond

Syndromic cone-rod dystrophies (CRDs) represent a heterogeneous group of genetic retinal disorders characterized by the progressive degeneration of photoreceptors. These conditions, through their impact on both cone and rod cells, lead to significant visual impairment, manifesting as diminished central visual acuity, compromised color perception, and increased light sensitivity. In addition to the associated ocular symptoms, syndromic CRDs are frequently seen accompanied with systemic manifestations, including that of skeletal, metabolic, neurological, renal, and cardiac anomalies, which complicate diagnosis and management. The genetic basis of syndromic CRDs is complex, involving several mutations in multiple genes linked to a diverse array of syndromic conditions, such as that of Bardet-Biedl, Usher, Alström, Jalili, Refsum disease, Senior-Loken, Cohen syndrome, Jeune, Sensenbrenner, and Joubert syndrome. Non-genetic assessments, such as that of electroretinography, play vital roles in differentiating CRDs, in particular syndromic forms, from pure cone dystrophies an, as they tend to reveal functional deficits in both cone and rod photoreceptors. This review aims to clarify the distinct genetic origins and clinical characteristics for these disorders.

کلیدواژه ها:

Syndromic Cone-Rod Dystrophies ، Retinal Degeneration ، genetic mutations ، Photoreceptor Degeneration ، Systemic Manifestations