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.

To study the prevalence and causes of blindness and visual impairment in various age categories of a large population-based study. Methods: For the study, 6775 subjects aged 55 years or older underwent an extensive ophthalmologic screening examination, including measurements of visual acuity and the visual field and fundus photography. The causes of blindness or visual impairment were determined using all screening information and medical records. Results: The prevalence of blindness, according to World Health Organization criteria, ranged from 0.1% in subjects aged 55 to 64 years to 3.9% in subjects aged 85 years or older; the prevalence of visual impairment ranged from 0.1% to 11.8%. For persons younger than 75 years, myopic degeneration and optic neuropathy were the most important causes of impaired vision. For persons aged 75 years or older, age-related macular degeneration was the major cause of the increased prevalence of blindness, whereas age-related cataract predominantly caused the increased prevalence of visual impairment. Conclusions: The hierarchy of causes of blindness and visual impairment is highly determined by age. As yet, little can be done to reduce the exponential increase of blindness; however, adequate implementation of surgery to treat cataract could reduce visual impairment by one third. Underuse of ophthalmologic care is a prominent cause of the high frequency of untreated cataracts among the elderly.

The Rotterdam Study is an ongoing prospective cohort study that started in 1990 in the city of Rotterdam, The Netherlands. The study aims to unravel etiology, preclinical course, natural history and potential targets for intervention for chronic diseases in mid-life and late-life. The study focuses on cardiovascular, endocrine, hepatic, neurological, ophthalmic, psychiatric, dermatological, otolaryngological, locomotor, and respiratory diseases. As of 2008, 14,926 subjects aged 45 years or over comprise the Rotterdam Study cohort. Since 2016, the cohort is being expanded by persons aged 40 years and over. The findings of the Rotterdam Study have been presented in over 1700 research articles and reports. This article provides an update on the rationale and design of the study. It also presents a summary of the major findings from the preceding 3 years and outlines developments for the coming period.

No abstract