Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands; Department of Ophthalmology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20-30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction. Photoreceptor function measured with an electroretinogram is markedly reduced or even absent. Optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging show a progressive loss of outer retinal layers and altered lipofuscin distribution in a characteristic pattern. Over the past three decades, a vast number of disease-causing variants in more than 80 genes have been associated with non-syndromic RP. The wide heterogeneity of RP makes it challenging to describe the clinical findings and pathogenesis. In this review, we provide a comprehensive overview of the clinical characteristics of RP specific to genetically defined patient subsets. We supply a unique atlas with color fundus photographs of most RP subtypes, and we discuss the relevant considerations with respect to differential diagnoses. In addition, we discuss the genes involved in the pathogenesis of RP, as well as the retinal processes that are affected by pathogenic mutations in these genes. Finally, we review management strategies for patients with RP, including counseling, visual rehabilitation, and current and emerging therapeutic options.
色素性视网膜炎(RP)是一组遗传性视网膜变性疾病,其特征为视杆和视锥感光细胞的原发性变性。RP 是导致视力障碍的主要原因,全球患病率为 1:4000。尽管大多数 RP 病例是非综合征性的,但 20-30%的 RP 患者也伴有非眼部疾病。RP 通常在青少年时表现为夜盲,随后出现向心性视野丧失,反映了视杆感光细胞的主要功能障碍;由于视锥功能障碍,中心视力丧失发生在生命后期。视网膜电图测量的感光器功能明显降低甚至消失。光学相干断层扫描(OCT)和眼底自发荧光(FAF)成像显示外视网膜层的进行性丧失和脂褐素分布的特征性改变。在过去的三十年中,已有 80 多个基因的大量致病变异与非综合征性 RP 相关。RP 的广泛异质性使得描述其临床特征和发病机制具有挑战性。在这篇综述中,我们提供了一个针对特定基因定义的 RP 患者亚组的临床特征的全面概述。我们提供了一个独特的图谱,其中包含大多数 RP 亚型的彩色眼底照片,并讨论了与鉴别诊断相关的注意事项。此外,我们还讨论了参与 RP 发病机制的基因,以及这些基因中的致病突变所影响的视网膜过程。最后,我们综述了 RP 患者的管理策略,包括咨询、视力康复以及当前和新兴的治疗选择。
Prog Retin Eye Res. 2018-3-27
Orphanet J Rare Dis. 2006-10-11
Orphanet J Rare Dis. 2007-2-1
Zhonghua Yan Ke Za Zhi. 2017-2-11
Invest Ophthalmol Vis Sci. 2013-1-30
Ophthalmic Genet. 2016-9
Invest Ophthalmol Vis Sci. 2014-5-29
Stem Cell Rev Rep. 2025-9-11
Invest Ophthalmol Vis Sci. 2025-9-2
Invest Ophthalmol Vis Sci. 2025-8-1
Medicina (Kaunas). 2025-6-29