Janáky Márta, Braunitzer Gábor
Department of Ophthalmology, Szent-Györgyi Albert Medical School, University of Szeged, 6720 Szeged, Hungary.
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Vision (Basel). 2025 Jan 20;9(1):7. doi: 10.3390/vision9010007.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms. These insights support clinicians in recognizing syndromic RP early. Ocular signs like nystagmus and congenital cataracts may indicate systemic disease, prompting genetic testing. Conversely, systemic symptoms may necessitate eye exams, even if vision symptoms are absent. Understanding the systemic aspects of these syndromes emphasizes the need for multidisciplinary collaboration among ophthalmologists, pediatricians, and other specialists to optimize patient care. The review also addresses emerging genetic therapies aimed at both visual and systemic symptoms, though more extensive studies are required to confirm their effectiveness. Overall, by detailing the genetic and clinical profiles of syndromic RP, this review seeks to aid healthcare professionals in diagnosing and managing these complex conditions more effectively, enhancing patient outcomes through timely, specialized intervention.
视网膜色素变性（RP）涵盖遗传性视网膜营养不良，其表现既可以是单纯的眼部疾病，也可以是更广泛的全身综合征的一部分，即综合征性RP。在这些情况下，RP包括影响其他器官的全身症状，使诊断和治疗复杂化。本综述重点介绍与RP相关的关键全身综合征，如Usher综合征、Bardet-Biedl综合征和Alström综合征，重点关注基因突变、遗传方式和临床症状。这些见解有助于临床医生早期识别综合征性RP。眼球震颤和先天性白内障等眼部体征可能提示全身性疾病，从而促使进行基因检测。相反，即使没有视力症状，全身症状也可能需要进行眼科检查。了解这些综合征的全身情况强调了眼科医生、儿科医生和其他专科医生之间多学科合作以优化患者护理的必要性。该综述还讨论了针对视觉和全身症状的新兴基因疗法，不过还需要更广泛的研究来证实其有效性。总体而言，通过详细介绍综合征性RP的基因和临床特征，本综述旨在帮助医疗保健专业人员更有效地诊断和管理这些复杂疾病，通过及时、专业的干预提高患者的治疗效果。
