Monica Olsson

Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.

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, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in children with severe corneal clouding, hampering visualization of the fundus. Intraocular pressures may be falsely high, even leading to suspicion and unnecessary pressure‐lowering treatment. Simple interventions such as the use of prescription glasses or photochromatic glasses can considerably improve quality of life in children with MPS.

Morning Glory Disc Anomaly in childhood – a population-based study

To report prevalence, ocular characteristics and coexisting neurological, behavioural, somatic and neuroradiological abnormalities in children and adolescents with morning glory disc anomaly (MGDA).

Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency.

Purpose:  The aims of the present study were to investigate visual function, ocular motility and ocular characteristics in children and young adults with complex I deficiency.

Cataract after allogeneic hematopoietic stem cell transplantation in childhood

The aim of this study was to study long‐term visual outcome and cataract development in children and adolescents after hematopoietic stem cell transplantation (HSCT) in childhood.

Ocular motor score a novel clinical approach to evaluating ocular motor function in children.

Purpose:  Ocular motility disturbances are common in a number of neuropaediatric and neurometabolic disorders. Assessment of ocular motor function can be a source of information for diagnosis and follow‐up of these patients.

Visual field results and optic disc morphology in patients treated with allogeneic stem-cell transplantation in childhood

Acta Ophthalmol. 2011: 89: 62–69

Chorioretinal scars and visual deprivation are common in children with cochlear implants after congenital cytomegalovirus infection

The aim of this study was to compare visual function and ocular characteristics in children with cochlear implants, due to severe hearing impairment caused by the congenital cytomegalovirus (CMV) infection, with control children fitted with cochlear implants due to connexin 26 mutations (Cx26), a genetic cause of hearing impairment.

Ocular Motor Score (OMS): a clinical tool to evaluating ocular motor functions in children. Intrarater and inter-rater agreement.

Ocular motor score (OMS) is a new clinical test protocol for evaluating ocular motor functions in children and young adults. OMS is a set of 15 important and relevant non‐invasive ocular motor function parameters derived from clinical practice. The aim of the study was to evaluate OMS according to intrarater and inter‐rater agreement.

Visual perceptual skills and visual motor integration in children and adolescents after allogeneic hematopoietic stem cell transplantation

The aim of the study was to study visual acuity, visual perceptual, and VMI skills in patients after HSCT in childhood. Tests of visual perceptual skills, VMI, and visual acuity were performed in 102 children/adolescents (age range 4.3‐20.9 years). Mean time from HSCT to testing was 6.0 years (0.9‐17.5 years). Visual acuity was median 1.0 decimal (range 0.16‐1.6). Visual perceptual skills (memory, form constancy, visual sequential memory) and VMI were low compared to age‐equivalent normative data with, respectively, 36%, 45%, 60%, and 46% of all patients performing below the 25 percentile. All patients performed significantly lower than the 50 percentile in the reference material in visual sequential memory, P < .001 (boys P < .001 and girls P < .05). All patients also performed significantly lower than the 50 percentile in VMI (P < .01) (boys P < .05). Pretransplant conditioning regimen did not affect outcome if the results were corrected for age at HSCT. Visual perceptual skill problems and VMI problems frequently occur in patients after HSCT in childhood. Age at HSCT and original diagnosis influence the outcome. Neuropsychological assessment including visual perception is recommended in children after HSCT.

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants

This prospective study assessed the long‐term ocular and visual outcomes of children with mucopolysaccharidoses type I Hurler syndrome (MPS IH) who were treated with haematopoietic stem cell transplants (HSCT).