Prevalence, Age at Diagnosis, Mortality, and Cause of Death in Retinitis Pigmentosa in Korea—A Nationwide Population-based Study

Na, Kun Hoo; Kim, Hyun Jung; Kim, Kyoung Hoon; Han, Seongwoo; Kim, Patrick; Hann, Hoo Jae; Ahn, Hyeong Sik

doi:10.1016/j.ajo.2017.01.014

Cited by 52 publications

(36 citation statements)

References 30 publications

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“…The mean age at diagnosis was 27.5 years (range, 11-60 years) in our cohort. This is similar to that reported in a previous study of RP associated with mutations in the PDE6 gene family (21.0 years; range, 3-45 years) 12 ; however, it is much lower than the mean age at diagnosis reported in a study examining all types of RP in patients of Korean ethnicity (44.8 years; range, 0-95 years) 13 . Considering the age of disease onset, the patients with PDE6B variants in our study experienced their first ocular symptoms at a median age of 10.0 years; this is relatively early compared to the median age of onset reported in a previous study of RP associated with other causative genes (29 years; range, 4-77 years) 14 .…”

Section: Discussionsupporting

confidence: 88%

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Kim

Song

et al. 2020

Sci Rep

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Due to the genotype–phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype–phenotype correlations to predict the clinical course. We retrospectively reviewed targeted next-generation sequencing or whole exome sequencing data for 305 patients with RP, and identified PDE6B-RP in 15 patients (median age, 40.0 years). Amongst these patients, ten previously reported PDE6B variants (c.1280G > A, c.1488del, c.1547T > C, c.1604T > A, c.1669C > T, c.1712C > T, c.2395C > T, c.2492C > T, c.592G > A, and c.815G > A) and one novel variant (c.712del) were identified. Thirteen patients (86.7%) experienced night blindness as the first symptom at a median age of 10.0 years. Median age at diagnosis was 21.0 years and median visual acuity (VA) was 0.20 LogMAR at the time of genetic analysis. Nonlinear mixed models were developed and analysis revealed that VA exponentially decreased over time, while optical coherence tomography parameters linearly decreased, and this was related with visual field constriction. A high proportion of patients with the c.1669C > T variant (7/9, 77.8%) had cystoid macular edema; despite this, patients with this variant did not show a higher rate of functional or structural progression. This study will help clinicians predict functional and structural progression in patients with PDE6B-RP.

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Section: Discussionsupporting

confidence: 88%

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Kim

Song

et al. 2020

Sci Rep

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“…We also excluded subjects who had known conditions masquerading as CP from SCP, using the codes of the Rare Intractable Disease database (Fig 1, S2 Table), which is a registry for rare diseases [21].…”

Section: Methodsmentioning

confidence: 99%

Which growth parameters can affect mortality in cerebral palsy?

et al. 2019

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Background The objective of this study was to identify growth parameters that can affect mortality of cerebral palsy (CP). Method This was a birth cohort study based on the National Health Screening Program for Infants and Children database along with the National Health Insurance Service, which were linked using a personal identifier number. The birth cohort consisted of 2 191 956 subjects, representing 93.5% of live births from 2007–2011, with maximal 10-year follow-up (range, 5–10 years) until October 2016. Subjects with CP were identified. Growth parameters in terms of birth weight, underweight (weight-for-age below the 3rd percentile), rate of body weight gain were collected, along with all-cause mortality after the age of 1 year. Result Prevalence of CP was 2.0 per 1000 live births (95% CI, 1.94–2.06). All-cause mortality after the age of 1 year was 0.09 deaths/1000 person-years (95% CI, 0.08–0.09) in the general population (GP) and 2.85 deaths/1000 person-years (95% CI, 2.32–3.50) in subjects with CP during the follow-up. Therefore, the incidence rate ratio for all-cause mortality was 32.15 (95% CI, 25.72–39.76) in subjects with CP compared to GP. Presence of underweight was significantly associated with higher mortality in both subjects with CP and GP, where the adjusted hazard ratio of death was 2.60 (95% CI, 1.93–3.50) at the age of 18–24 months, 3.12 at 30–36 months, 4.37 at 42–48 months, 5.12 at 54–60 months, and 4.17 at 66–71 months. Birth weight did not affect mortality in both subjects with CP and GP after the age of 1 year ( p > 0.05). Conclusion While subjects with CP shows higher mortality, underweight is an important growth parameter that affects all-cause mortality of both subjects with CP and GP. This study urges increased awareness that subjects with CP who are underweight require special care.

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“…Assessing mental health in adults with rare bone diseases is likely to be important as many adults with rare bone and mineral conditions have function limitations and increased pain (18) and a number of studies have demonstrated these characteristics are important predictors of mental health and suicide risk in the general population across all ages (19)(20)(21)(22)(23). However, few studies have reported the rate and determinants of suicide in people with rare bone and mineral conditions (24)(25)(26)(27)(28). So, while the survey respondents did not prioritise assessment of aspects of their mental wellbeing, to omit this from the registry was considered counterproductive.…”

Section: Discussionmentioning

confidence: 99%

Patients’ Priorities and Expectations on an EU Registry for Rare Bone and Mineral Conditions

Javaid

Mordenti

Boarini

et al. 2020

Preprint

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BackgroundUnderstanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. To understand the user needs, the European Reference Network on Rare Bone Diseases (ERN BOND) and European Patient Advocacy Groups developed and implemented a multinational survey about the patient’s preferred database content and functionality. Findings were analysed using descriptive statistics and regression methods.ResultsThere were 493 eligible responses from 378 adults, 15 children and 100 parents, guardians or carers (PGC) across 22 rare bone and mineral conditions. Osteogenesis imperfecta constituted 53.4% of responses. Contents related to improving treatment and medical services scored the highest and contents about anxiety and socializing scored less highly. Additional content was recommended by 205 respondents. Respondents preferred data entry by their Healthcare Provider (HCP). However, less than 50% of adults received followup from their specialist HCP at least annually and 29% were followed up as needed. ConclusionsThis survey of individuals, their family, guardians and carers has prioritised the key components for an EU-based rare bone and mineral condition research database. The survey highlights issues around collecting psychosocial impacts as well as measures of HCP trust. The survey demonstrated that using only specialist centre visits for data collection, while preferred by patients, will miss a substantial number of individuals, limiting generalisability. Combined HCP and patient platforms will be required to collect representative and complete natural history data for this patient group.

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Prevalence, Age at Diagnosis, Mortality, and Cause of Death in Retinitis Pigmentosa in Korea—A Nationwide Population-based Study

Cited by 52 publications

References 30 publications

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Which growth parameters can affect mortality in cerebral palsy?

Patients’ Priorities and Expectations on an EU Registry for Rare Bone and Mineral Conditions

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