Pericak Jakob M, Chin Eric K, Almeida David R P
Erie Retina Research and Center for Advanced Surgical Exploration, Erie, PA, USA.
Retina Consultants of Southern California, Redlands, CA, USA.
Case Rep Ophthalmol. 2025 Feb 3;16(1):143-148. doi: 10.1159/000543419. eCollection 2025 Jan-Dec.
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.
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 , , and 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.
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.
遗传性视网膜疾病，尤其是纤毛病，常常导致不可逆的失明，并且经常伴有诸如肾单位肾痨等全身表现。目前的治疗选择有限，因此有必要探索补充策略以减缓疾病进展。
我们展示了一个来自视网膜手术诊所的罕见病例，该病例涉及一名30岁男性，患有常染色体隐性遗传性视网膜色素变性（ARRP）和青少年肾单位肾痨。进行了全面的眼部和基因评估，随后实施了旨在减轻多系统影响的营养干预措施。基因检测揭示了 、 和 基因中的致病变异，确诊为ARRP。营养策略，包括ω-3脂肪酸、抗氧化剂以及针对肾脏健康的定制饮食调整，与标准医疗护理相结合。这些干预措施有助于稳定视网膜变性并改善终末期肾病的管理。
将个性化营养策略纳入纤毛病的管理中，可以通过解决眼部和全身表现来改善患者预后。这些发现强调了围绕营养教育制定政策以及为遗传性纤毛病患者提供支持的必要性。
