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Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK

BackgroundA prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood.MethodsChildren aged

Journal Title: British journal of ophthalmology 2012-03, Vol.96 (3), p.360-365
Main Author: Hamblion, Esther L
Other Authors: Moore, Anthony T , Rahi, Jugnoo S
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
ID: ISSN: 0007-1161
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title: Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK
format: Article
creator:
  • Hamblion, Esther L
  • Moore, Anthony T
  • Rahi, Jugnoo S
subjects:
  • Adolescent
  • Age Distribution
  • Biological and medical sciences
  • Care and treatment
  • Child
  • child health (paediatrics)
  • Child, Preschool
  • childhood
  • Comorbidity
  • Congenital diseases
  • Cross-Sectional Studies
  • Data collection
  • Demographic aspects
  • Disease
  • dystrophy
  • epidemiology
  • Eye Diseases, Hereditary - epidemiology
  • Eye Diseases, Hereditary - genetics
  • Female
  • Humans
  • Incidence
  • Infant
  • Macular degeneration
  • Male
  • Medical sciences
  • Miscellaneous
  • Ophthalmology
  • Population
  • Prospective Studies
  • Retina
  • Retinal diseases
  • Retinal disorders
  • Retinal Dystrophies - epidemiology
  • Retinal Dystrophies - genetics
  • retinal dystrophy
  • Risk Assessment
  • Sex Distribution
  • Sociodemographics
  • Statistics
  • Studies
  • Surveillance
  • Surveys and Questionnaires
  • United Kingdom - epidemiology
  • Vision Disorders - diagnosis
ispartof: British journal of ophthalmology, 2012-03, Vol.96 (3), p.360-365
description: BackgroundA prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood.MethodsChildren aged
language: eng
source:
identifier: ISSN: 0007-1161
fulltext: no_fulltext
issn:
  • 0007-1161
  • 1468-2079
url: Link


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titleIncidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK
creatorHamblion, Esther L ; Moore, Anthony T ; Rahi, Jugnoo S
creatorcontribHamblion, Esther L ; Moore, Anthony T ; Rahi, Jugnoo S ; British Childhood Onset Hereditary Retinal Disorders Network
descriptionBackgroundA prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood.MethodsChildren aged <16 years with a new diagnosis of an inherited retinal disorder made between September 2006 and February 2008 in the UK were identified through two national active surveillance schemes. Clinical and socio-demographic information was collected on each child at diagnosis and 9 months later using standardised questionnaires.Results241 patients were reported with 24 distinct diagnoses. 14% had additional systemic disorders and 13% had dual sensory impairment. Annual incidence was 1.4/100 000 children (aged 0–15 years) and the cumulative incidence by age 16 years was 22.3/100 000 children. The most common mode of inheritance was autosomal recessive. A significantly higher rate was seen in males than females (relative rate (RR) 1.53), in children of Asian compared with White ethnicity (RR 7.12) and in those in the worst quintile of socio-economic deprivation compared with those in the best (RR 1.43). Parents most commonly detected a problem with their child's vision. Up to seven different health professionals were involved in a child's early management, and variations were noted in the proportion of eligible children having assessments for low vision aids, statement of educational needs and certification as sight-impaired.ConclusionsThese findings illustrate the highly heterogeneous nature of childhood retinal dystrophies and provide previously unavailable data on disease incidence, distributions and management, which are important for service provision and for planning future treatment programmes, particularly as novel therapies become available.
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subjectAdolescent ; Age Distribution ; Biological and medical sciences ; Care and treatment ; Child ; child health (paediatrics) ; Child, Preschool ; childhood ; Comorbidity ; Congenital diseases ; Cross-Sectional Studies ; Data collection ; Demographic aspects ; Disease ; dystrophy ; epidemiology ; Eye Diseases, Hereditary - epidemiology ; Eye Diseases, Hereditary - genetics ; Female ; Humans ; Incidence ; Infant ; Macular degeneration ; Male ; Medical sciences ; Miscellaneous ; Ophthalmology ; Population ; Prospective Studies ; Retina ; Retinal diseases ; Retinal disorders ; Retinal Dystrophies - epidemiology ; Retinal Dystrophies - genetics ; retinal dystrophy ; Risk Assessment ; Sex Distribution ; Sociodemographics ; Statistics ; Studies ; Surveillance ; Surveys and Questionnaires ; United Kingdom - epidemiology ; Vision Disorders - diagnosis
ispartofBritish journal of ophthalmology, 2012-03, Vol.96 (3), p.360-365
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descriptionBackgroundA prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood.MethodsChildren aged <16 years with a new diagnosis of an inherited retinal disorder made between September 2006 and February 2008 in the UK were identified through two national active surveillance schemes. Clinical and socio-demographic information was collected on each child at diagnosis and 9 months later using standardised questionnaires.Results241 patients were reported with 24 distinct diagnoses. 14% had additional systemic disorders and 13% had dual sensory impairment. Annual incidence was 1.4/100 000 children (aged 0–15 years) and the cumulative incidence by age 16 years was 22.3/100 000 children. The most common mode of inheritance was autosomal recessive. A significantly higher rate was seen in males than females (relative rate (RR) 1.53), in children of Asian compared with White ethnicity (RR 7.12) and in those in the worst quintile of socio-economic deprivation compared with those in the best (RR 1.43). Parents most commonly detected a problem with their child's vision. Up to seven different health professionals were involved in a child's early management, and variations were noted in the proportion of eligible children having assessments for low vision aids, statement of educational needs and certification as sight-impaired.ConclusionsThese findings illustrate the highly heterogeneous nature of childhood retinal dystrophies and provide previously unavailable data on disease incidence, distributions and management, which are important for service provision and for planning future treatment programmes, particularly as novel therapies become available.
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40Surveillance
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42United Kingdom - epidemiology
43Vision Disorders - diagnosis
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titleIncidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK
authorHamblion, Esther L ; Moore, Anthony T ; Rahi, Jugnoo S
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abstractBackgroundA prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood.MethodsChildren aged <16 years with a new diagnosis of an inherited retinal disorder made between September 2006 and February 2008 in the UK were identified through two national active surveillance schemes. Clinical and socio-demographic information was collected on each child at diagnosis and 9 months later using standardised questionnaires.Results241 patients were reported with 24 distinct diagnoses. 14% had additional systemic disorders and 13% had dual sensory impairment. Annual incidence was 1.4/100 000 children (aged 0–15 years) and the cumulative incidence by age 16 years was 22.3/100 000 children. The most common mode of inheritance was autosomal recessive. A significantly higher rate was seen in males than females (relative rate (RR) 1.53), in children of Asian compared with White ethnicity (RR 7.12) and in those in the worst quintile of socio-economic deprivation compared with those in the best (RR 1.43). Parents most commonly detected a problem with their child's vision. Up to seven different health professionals were involved in a child's early management, and variations were noted in the proportion of eligible children having assessments for low vision aids, statement of educational needs and certification as sight-impaired.ConclusionsThese findings illustrate the highly heterogeneous nature of childhood retinal dystrophies and provide previously unavailable data on disease incidence, distributions and management, which are important for service provision and for planning future treatment programmes, particularly as novel therapies become available.
copBMA House, Tavistock Square, London, WC1H 9JR
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pmid21653210
doi10.1136/bjo.2010.201178