Kristina Teär Fahnehjelm

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PURPOSE To present visual functions and ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with stem cell transplantation (SCT). METHODS Clinical ophthalmological evaluations including visual evoked potentials (VEPs) were carried out. RESULTS Stem cell transplantation was performed before 20 months of age.(More)
AIM To analyse pre- and neonatal data and ocular findings in children with visual impairment caused by posterior ocular malformations. METHODS Medical records were scrutinized, dried blood spot cards were analysed for virus DNA and ophthalmological assessments were performed in 28 children with optic nerve hypoplasia (ONH) and 10 with optic/chorio-retinal(More)
UNLABELLED Congenital toxoplasmosis may lead to severe visual impairment or neurological sequelae in the child. PURPOSE To study the severity of the primary and late ophthalmological dysfunction during a prospective incidence study of congenital toxoplasmosis in the Stockholm and Skåne counties. METHODS Blood collected on phenylketonuria (PKU) cards(More)
PURPOSE To report the prevalence of dry-eye syndrome (DES) in children and young adults treated with allogeneic stem-cell transplantation (SCT) during childhood; to relate DES to conditioning regimes, including total body irradiation (TBI) and chemotherapy, and to immunosuppressive drugs and graft-versus-host disease (GVHD). METHODS This cross-sectional(More)
PURPOSE To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities. METHODS Case report. RESULTS The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of the brain with a nodular cortical(More)
Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the(More)
PURPOSE To describe visual function and ocular manifestations in patients with onset of cholestasis during the neonatal period. METHODS Patients with neonatal cholestasis, either transitory or chronic, who came for assessment to our tertiary referral centre were included in a cross-sectional study and underwent ophthalmological examinations including(More)
PURPOSE To present long-term ocular complications and electroretinographic (ERG) findings in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency - a life-threatening metabolic disease - and the relation to age at diagnosis, treatment and other clinical parameters. METHODS Ten children with LCHAD deficiency underwent repeated(More)
The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera,(More)