Healthcare, school and daily life experiences of patients with microphthalmia or anophthalmia and their parents.

Aim: This qualitative study explored the lived experiences of the patients with microphthalmia and anophthalmia and their parents, focusing on the healthcare, school settings and daily life challenges to improve patient management.

Methods: In-depth interviews were conducted in Stockholm, Sweden, from October 2022 to June 2023. Participants were recruited through the St Erik Eye Hospital database (2008-2022), and the data was analysed using reflexive thematic analysis.

[Important to evaluate children with visual impairment].

Congenital optic disc malformations can cause visual impairment. Diagnostics can be challenging during early infancy and childhood and visual prognosis difficult to predict; optical coherence tomography may be of value. The children often have coexisting comorbidities like pituitary hormone deficiency, neurodevelopmental disorders, and neurological impairments, and evaluation by a pediatrician should be performed.

[Retinal hemorrhages in abusive head trauma].

Brain injuries due to abusive head trauma (AHT) in infants are not rare and they are probably under-diagnosed. Retinal hemorrhages (RH) constitute a cardinal symptom of AHT and AHT is the most common cause of RH in infants next to childbirth. Retinoschisis with or without retinal folds is highly suggestive of AHT and never seen secondary to childbirth.

Correction: Non-GVHD ocular complications after hematopoietic cell transplantation: expert review from the Late Effects and Quality of Life Working Committee of the CIBMTR and Transplant Complications Working Party of the EBMT.

In the original version of this article, author 'Aisha Al-Khinji' was incorrectly listed as 'Aisha Ahmed'. This has now been corrected in both the PDF and HTML versions of the article to 'Aisha Al-Khinji'.

Non-GVHD ocular complications after hematopoietic cell transplantation: expert review from the Late Effects and Quality of Life Working Committee of the CIBMTR and Transplant Complications Working Party of the EBMT.

Non-graft-vs.-host disease (non-GVHD) ocular complications are generally uncommon after hematopoietic cell transplantation (HCT), but can cause prolonged morbidity affecting activities of daily living and quality of life. Here we provide an expert review of non-GVHD ocular complications in a collaboration between transplant physicians and ophthalmologists through the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and the Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation.

Ocular graft-versus-host disease after hematopoietic cell transplantation: Expert review from the Late Effects and Quality of Life Working Committee of the CIBMTR and Transplant Complications Working Party of the EBMT.

Ocular graft-versus-host disease (GVHD) occurs in more than half of patients who develop chronic GVHD after allogeneic hematopoietic cell transplantation (HCT), causing prolonged morbidity, which affects activities of daily living and quality of life. Here we provide an expert review of ocular GVHD in a collaboration between transplant physicians and ophthalmologists through the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and the Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation. Recent updates in ocular GVHD, regarding pathophysiology, preclinical models, risk factors, prevention, screening, diagnosis, response criteria, evaluation measures, and treatment are discussed in this review.

Non-Graft-versus-Host Disease Ocular Complications after Hematopoietic Cell Transplantation: Expert Review from the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and the Transplant Complications Working Party of the European Society for Blood and Marrow Transplantation.

Non-graft-versus-host disease (GVHD) ocular complications are generally uncommon after hematopoietic cell transplantation (HCT) but can cause prolonged morbidity affecting activities of daily living and quality of life. Here we provide an expert review of non-GVHD ocular complications in a collaboration between transplantation physicians and ophthalmologists through the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and the Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation. Complications discussed in this review include cataracts, glaucoma, ocular infections, ocular involvement with malignancy, ischemic microvascular retinopathy, central retinal vein occlusion, retinal hemorrhage, retinal detachment and ocular toxicities associated with medications.

Ocular Graft-versus-Host Disease after Hematopoietic Cell Transplantation: Expert Review from the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation.

Ocular graft-versus-host disease (GVHD) occurs in more than one-half of patients who develop chronic GVHD after allogeneic hematopoietic cell transplantation (HCT), causing prolonged morbidity that affects activities of daily living and quality of life. Here we provide an expert review of ocular GVHD in a collaboration between transplantation physicians and ophthalmologists through the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and the Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation. Recent updates in ocular GVHD regarding pathophysiology, preclinical models, risk factors, prevention, screening, diagnosis, response criteria, evaluation measures, and treatment are discussed.

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.

Visual evoked potentials after hematopoietic allogeneic stem cell transplantation in childhood.

Objective: To study visual pathway pathology detected by visual evoked potentials (VEPs) in patients treated with hematopoietic stem cell transplantation (HSCT) in childhood and to determine the impact of adverse ocular findings, somatic diseases, and conditioning regimens on the VEP results.

Methods: Ophthalmological assessments including pattern VEPs were performed in 47 of 79 patients at a median age of 15 years (range 3-21 years) in median 6 years (1-17 years) after HSCT. Somatic data were extracted from medical records.

Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.

Aim: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This study correlated long-term electroretinographic findings with age, metabolic control and clinical symptoms.

Methods: We examined 12 Swedish patients with LCHADD.

Morning glory disc anomaly in childhood - a population-based study.

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

Methods: In a cross-sectional population-based study, 12 patients with MGDA, aged 2-20 years, were identified. All 12 agreed to ophthalmological assessments including visual functions, refraction, fundus photography, optical coherence tomography (OCT) and ocular motor score (OMS).

Impaired balance and neurodevelopmental disabilities among children with congenital cytomegalovirus infection.

Aim: Although cytomegalovirus (CMV) is the most common congenital infection, existing research has not provided us with a full picture of how this can affect children in the future. The aim of this case-control study was to evaluate disabilities in a well-defined group of children with congenital cytomegalovirus (CMV) infection, who had been fitted with cochlear implants because of severe hearing impairment.

Methods: A multidisciplinary team assessed 26 children with congenital CMV infection for balance difficulties, neurodevelopmental disabilities and language and visual impairment.

Ocular manifestations and visual functions in patients with Fanconi anaemia.

Purpose: Fanconi anaemia (FA) is a multisystemic disorder with ocular implications. This study aims to describe visual function, ocular characteristics and visual processing skills in patients with FA after haematopoietic stem cell transplantation.

Methods: Ten patients with FA, ages 8-17 years, underwent ophthalmological examinations, corneal, periocular and fundus photography, visual evoked potentials (VEPs), visual fields and ocular motor and visual processing information tests.

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.

Aim: To evaluate a new clinical ocular motor function test: ocular motor score (OMS) and provide reference values in children and young adults without known ocular or neurological disorders.

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.

Corneal hysteresis in mucopolysaccharidosis I and VI.

Purpose: High intraocular pressure (IOP) and glaucoma are often suspected in patients with mucopolysaccharidosis (MPS). To determine corneal hysteresis (CH) and IOP in children with mucopolysaccharidosis I-Hurler (MPS I-H) and MPS VI.

Methods: Clinical measurements with ocular response analyzer (ORA).

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.

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 first 6 months of life with increasing head size, recurrent infections, umbilical hernia, growth retardation and skeletal problems. Typical ocular features include corneal clouding, ocular hypertension/glaucoma, retinal degeneration and optic nerve atrophy.

Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler).

Background/aims: To assess corneal refraction and axial length in children with mucopolysaccharidosis I-Hurler (MPS I-H), treated early with stem cell transplantation (SCT), in order to establish possible causes of hyperopia.

Methods: Clinical ophthalmological follow-up included keratometry and measurements of axial length.

Results: Five patients, with SCT performed before 23 months of age, were examined.

Occurrence and pattern of ocular disease in children with cholestatic disorders.

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 fundus photography. A total of 57 patients (24 girls and 33 boys), aged 0.

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.

Material And Methods: In a prospective study with longitudinal follow-up, the visual and ocular outcome in 13 patients with deficiency in complex I [nicotine-amide adenine dinucleotide (NADH) dehydrogenase] in the mitochondrial respiratory chain is presented. The patients were diagnosed during 1995-2007 and assessed during 1997-2009 at a median age of 12.

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

Purpose: This study aimed to describe the Rarebit (RB) visual field and optic nerve size/morphology in patients treated with allogeneic stem-cell transplantation (SCT) in childhood, and to determine the impact of ocular status and conditioning regimens such as total body irradiation (TBI), chemotherapy and/or immunosuppressive drugs on the RB visual field.

Methods: Ocular fundi were evaluated in 79 patients. Digital analyses regarding optic disc area (DA), rim area (RA) and cup area (CA) were performed in 45 of 49 patients.