Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report

Abstract

Introduction: Inherited retinal diseases, particularly ciliopathies, often lead to irreversible blindness and are frequently accompanied by systemic manifestations such as nephronophthisis. Current treatment options are limited, necessitating the exploration of supplementary strategies to slow disease progression. Case Presentation: We present a rare case from a retinal surgery clinic involving a 30-year-old male with autosomal recessive retinitis pigmentosa (ARRP) and juvenile nephronophthisis. Comprehensive ocular and genetic evaluations were conducted, followed by the implementation of nutritional interventions aimed at mitigating multi-systemic effects. Genetic testing revealed pathogenic variants in CEP83, PCARE, and VPS13B genes, confirming the diagnosis of ARRP. Nutritional strategies, including omega-3 fatty acids, antioxidants, and tailored dietary modifications for renal health, were integrated alongside standard medical care. These interventions contributed to the stabilization of retinal degeneration and improved management of end-stage renal disease. Conclusion: Integrating personalized nutritional strategies into the management of ciliopathies can enhance patient out-comes by addressing both ocular and systemic manifestations. These findings underscore the need for policy development around nutritional education and support for patients with inherited ciliopathies.