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10.1159/000543419 http://scihub22266oqcxt.onion/10.1159/000543419 C12245148!12245148 !40642756     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=40642756 &cmd=llinks): Failed to open stream: HTTP request failed! 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Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report |pdf=|usr=}}{{40642756 }} gab.com Text Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report JO: Case Rep Ophthalmol http://www.kidney.de/pget.php?&tw=1&pmid=40642756 #FOAvip 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. Twit Text FOAVip Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report ????Case Rep Ophthalmol http://www.kidney.de/pget.php?&tw=1&pmid=40642756 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=40642756 #FOAvip English Wikipedia <ref>{{Cite pmid|40642756 }}</ref> Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report #MMPMID40642756 Pericak JM ; Chin EK ; Almeida DRP Case Rep Ophthalmol 2025[Jan]; 16 (1 ): 143-148 PMID40642756 show ga 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. äProgressive Retinal Degeneration and Juvenile Nephronophthisis in a Pa(epmc).pdf DeepDyve Pubget Overpricing