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Visual Impairment in Finnish Children

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Visual Impairment in Finnish Children DEPARTMENT OF OPHTHALMOLOGY, UNIVERSITY OF HELSINKI, FINLAND VISUAL IMPAIRMENT IN FINNISH CHILDREN Prevalence, causes and morbidity of full-term and preterm children with visual impairment born from 1972 through 1989 SIRKKA-LIISA RUDANKO ACADEMIC DISSERTATION TO BE PUBLICLY DISCUSSED BY PERMISSION OF THE MEDICAL FACULTY OF THE UNIVERSITY OF HELSINKI IN THE LECTURE HALL 2 OF BIOMEDICUM HELSINKI ON OCTOBER 19TH, 2007, AT 12 NOON HELSINKI 2007 Supervised by Professor Leila Laatikainen Department of Ophthalmology University of Helsinki Helsinki, Finland Reviewed by Professor Lotta Salminen Department of Ophthalmology University of Tampere Tampere, Finland Professor Olav Haugen Department of Ophthalmology Haukeland University Hospital Bergen, Norway Offi cial opponent Professor Maija Mäntyjärvi Department of Ophthalmology University of Kuopio Kuopio, Finland ISBN 978-952-92-2693-1 (paperback) ISBN 978-952-10-4196-9 (PDF) Helsinki University Printing House 2007 Contents ABBREVIATIONS. .7 LIST OF ORIGINAL PUBLICATIONS. .9 ABSTRACT . 10 ACKNOWLEDGEMENTS . 12 INTRODUCTION . 14 REVIEW OF THE LITERATURE. 16 Prevalence of visual impairment in children . 17 WHO categories of children with visual impairment. 18 Gender distribution of children with visual impairment . 19 Diagnoses of visual impairment in children. 19 Optic nerve atrophy . 20 Inherited retinal dystrophies . 20 Congenital cataract . 23 Retinopathy of prematurity. 24 Cerebral visual impairment . 27 Colobomata . 28 Optic nerve hypoplasia . 29 Aniridia . 29 Etiology of visual impairment in children. 30 Genetic etiology . 30 Prenatal etiology . 31 Perinatal etiology. 33 Prematurity as the cause of visual impairment . 33 Infantile-juvenile and other etiologies of visual impairment. 34 Multiple impairment in children with visual impairment . 35 Congenital malformations in children with visual impairment . .36 Prevalence of congenital ocular and other malformations . 36 Etiology and risks of visual malformations . 36 Mortality of children with visual impairment . 38 Rehabilitation for visual impairment in children . 39 3 Prospects of childhood visual impairment . 40 Gene therapy for inherited diseases . 40 Research on therapies with stem cells and antiangiogenetic agents . 40 Research on encapsulated cell technology . 41 THE AIMS OF THE STUDY . 42 MATERIAL AND METHODS. 43 Classifi cation and defi nitions of visual impairment in children . .44 Nordic database on visual impairment in children . 45 Classifi cation of diagnoses. 46 Coding of additional impairment . 46 Classifi cation of etiologies . 46 Study population . 47 Methods . 47 Defi nitions associated with pregnancy, child birth and infants 48 Data analysis and statistical methods . 49 RESULTS . 51 Study population (I–VI) . 51 Mothers . 51 Children. 52 Prenatal disorders . 52 Perinatal disorders . 53 Diagnoses of visual impairment in children (III, V, VI) . 55 Diagnoses of visual impairment in all children . 56 Diagnoses of visual impairment in blind children . 59 Multiple impairment in children with visual impairment (I–VI). .62 Congenital malformations . 62 Systemic diseases . 63 Additional impairment . 64 WHO categories of visual impairment in children (I, V, VI) . 68 Etiology of visual impairment in children (II). 69 Risk factors of visual impairment in children (V, VI). 73 Prevalence and incidence of visual impairment in children (I, V. VI) 73 4 Mortality of children with visual impairment (V, VI) . 75 DISCUSSION. 76 Profi le of children with visual impairment . 77 Severity of visual impairment . 77 Diagnoses of visual impairment . 77 Malformations . 79 Additional impairment and systemic diseases . 79 Full-term vs. preterm children . 81 Male dominance . 82 Etiologies of visual impairment in children . 82 Risk factors for visual impairment in children . 83 Visual and general prognosis of children . 84 Prediction of visual and general outcome . 86 Future treatments . 87 Health education . 88 Signifi cance of the study . 88 CONCLUSIONS . 90 REFERENCES. 92 APPENDIX . 109 5 To Seppo, Leena, and Harri 6 ABBREVIATIONS AAV adeno-associated virus BCVA best corrected visual acuity bFGF basic fi broblast growth factor BPD bronchopulmonary dysplasia BW birth weight CLN5 variant late infantile neuronal ceroid lipofuscinosis (Finnish type) CMV cytomegalovirus CNS central nervous system CP cerebral palsy CVI cerebral visual impairment DWI diff usion-weighted imaging ELBW extremely low birth weight (<1000g) ERG electroretinography FAE fetal alcohol eff ect FAS fetal alcohol syndrome GA gestational age GW gestational week HSV herpes simplex virus IAPB International Association for the Prevention of Blindness ICD International Classifi cation of Diseases ICH intracerebral hemorrhage ICIDH International Classifi cation of Impairments, Disabilities, and Handicaps INCL infantile neuronal ceroid lipofuscinosis IOL intraocular lens IVH intraventricular hemorrhage LBW low birth weight (<2500g) LCA Leber’s congenital amaurosis LED systemic lupus erythematosus MRI magnetic resonance imaging NBW normal birth weight (≥2500g) NCL neuronal ceroid lipofuscinosis ONA optic nerve atrophy ONH optic nerve hypoplasia PET positron emission tomography PVL periventricular leucomalacia 7 RDS respiratory distress syndrome RLF retrolental fi broplasia ROP retinopathy of prematurity Stakes National Research and Development Centre for Welfare and Health US ultrasound, ultrasonography VA visual acuity VEGF vascular endothelial growth factor VI visual impairment VLBW very low birth weight (<1500g) vs. versus WHO World Health Organization XLRS x-linked retinoschisis, x-linked juvenile retinoschisis 8 LIST OF ORIGINAL PUBLICATIONS Th is thesis is based on the following original publications, which are referred to in the text by their Roman numerals (I-VI). I Riise R, Flage T, Hansen E, Rosenberg T, Rudanko S-L, Viggosson G, Warburg M. Visual impairment in Nordic children. I. Nordic registers and prevalence data. Acta Ophthalmol (Copenh) 1992;70:145-54. II Rosenberg T, Flage T, Hansen E, Rudanko S-L, Viggosson G, Riise R. Visual impairment in Nordic children. II. Aetiological factors. Acta Ophthalmol (Copenh) 1992;70:155-64. III Hansen E, Flage T, Rosenberg T, Rudanko S-L, Viggosson G, Riise R. Visual impairment in Nordic children. III. Diagnoses. Acta Ophthalmol (Copenh) 1992;70:597-604. IV Riise R, Flage T, Hansen E, Rosenberg T, Rudanko S-L, Viggosson G. Visual impairment in Nordic children. IV. Sex distribution. Acta Ophthalmol (Copenh) 1992;70:605-9. V Rudanko S-L, Fellman V,.
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