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- Casslén, Beatrice, et al.
(författare)
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Health-related quality of life and functional vision in individuals with retinoblastoma treated with ocular prothesis
- 2023
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Ingår i: Investigative Ophthalmology and Visual Science. - : Association for Research in Vision and Ophthalmology. - 0146-0404 .- 1552-5783. ; 64:8
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Purpose: Health-Related Quality of Life (HR-QoL) among enucleated retinoblastoma (RB) survivors is scarcely studied. Perceptual Visual Dysfunctions (PVDs) are problems concerning interpretation of visual input, that to our knowledge, previously not has been studied in RB patients. This prospective cross-sectional cohort study aim to evaluate HR-QoL and PVDs in RB individuals, treated with ocular prosthesis.Methods: Twenty-seven RB individuals were treated with ocular prosthesis at the Sahlgrenska University Hospital, Gothenburg, Sweden, between 2000-2019. All were invited to the study, 15 (10 females; mean age 15.6 years, range 6.8-27.0 years) accepted. HR-QoL was assessed using the Pediatric Quality of Life inventory (PedsQL) with patients self- and parents-proxy report. Results were compared to normative data. PVDs was examined by history taking covering five areas and results were compared with a healthy, age- and sex- matched control group. Best corrected visual acuity (BCVA) was measured.Results: No differences were found in HR-QoL of individuals with RB compared with healthy controls, between parent proxy compared with parents of healthy children or between individuals with RB and their corresponding parents. More individuals with RB (9/15) reported PVDs in one or more areas (median 1; range 1-4) compared with 1/15 healthy controls; p=0.005 (Fig. 1). Depth perception was the most frequent reported PVD area (n=6), followed by simultaneous perception (n=5), movement (n=2), recognition (n=1) and orientation (n=1). Better HR-QoL correlated with better BCVA (r = -0.68; p=0.01) and fewer affected PVD areas (r = -0.63; p=0.01).Conclusions: The results showed no difference in HR-QoL of the RB individuals or parent-proxy compared with healthy controls. However, enucleated RB survivors were more affected by PVDs than healthy individuals. Their HR-QoL can be negatively affected by having problems within several PVD areas, and BCVA comprise an important role in QoL. It is necessary to identify PVDs to promote the best health care in individuals with RB treated with ocular prothesis. Further research is needed to better understand the impact on QoL and the role of PVDs among these individuals.
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| 5. |
- Dahl, S., et al.
(författare)
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Children with optic nerve hypoplasia face a high risk of neurodevelopmental disorders
- 2018
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 107:3, s. 484-489
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH. Methods: This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016. Of these 35 were bilateral and 30 were unilateral. Neurodevelopmental disorders were diagnosed or confirmed by neurological assessments, the Five to Fifteen parent questionnaire and reviewing previous neuropsychological investigations or conducting neuropsychological tests. Results: Bilateral ONH patients had lower mean full scale intelligence quotient scores than unilateral patients (84.4 and 99.4, respectively, p = 0.049). We assessed intellectual disability in 55 eligible patients, and it was more common in patients with bilateral ONH (18 of 32, 56%) than unilateral ONH (two of 23, 9%, p < 0.001). ASDs were diagnosed in seven of 42 (17%) patients. Conclusion: Children with bilateral ONH had a high risk of neurodevelopmental disorders, especially intellectual disability. The risk was lower in unilateral ONH, but the levels of neurodevelopmental disorders warrant screening of both groups.
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| 6. |
- Dahl, S., et al.
(författare)
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High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia
- 2019
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 108:9, s. 1677-1685
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Tidskriftsartikel (refereegranskat)abstract
- Aim This study examined the prevalence of neurological impairment and pituitary hormone deficiency (PHD) in patients with unilateral and bilateral optic nerve hypoplasia (ONH). Methods A population-based cross-sectional cohort study of 65 patients (51% female) with ONH was conducted in Stockholm. Of these were 35 bilateral and 30 unilateral. The patients were below 20 years of age, living in Stockholm in December 2009 and found through database searching. The median age at the analysis of the results in January 2018 was 16.1 years (range 8.1-27.5 years). Neurological assessments and blood sampling were conducted, neuroradiology was reviewed and growth curves were analysed. Diagnoses of PHDs were based on clinical and biochemical evidence of hormone deficiency. Results Neurological impairments were identified in 47% of the patients and impairments in gross and fine motor function were more prevalent in bilateral ONH (p < 0.001). In addition, 9% had cerebral palsy and 14% had epilepsy. The prevalence of PHD was 29 and 19% had multiple PHD. Conclusion Children with ONH had a high risk of neurological impairment, especially in bilateral disease. Both unilateral and bilateral ONH signified an increased prevalence of PHD and all these children should be endocrinologically followed up until completed puberty.
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- Fahnehjelm, Kristina Teär, et al.
(författare)
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Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : a cross-sectional study with long-term follow-up.
- 2008
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420 .- 1755-375X .- 1755-3768. ; 86:3, s. 329-337
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Tidskriftsartikel (refereegranskat)abstract
- 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 ophthalmological evaluations including ERG. RESULTS All 10 children developed chorioretinal pathology. Regardless of age at diagnosis, initiation of treatment and age at examination, inter-individual differences were present. Profound chorioretinal atrophy, severe visual impairment and progressive myopia had developed in two teenagers. Milder chorioretinopathy with or without subnormal visual acuity was present in all other children. ERG was pathological in seven children. The chorioretinopathy often started in the peripapillary or perimacular areas. In one patient, unilateral visual impairment was associated with fibrosis. CONCLUSION Early diagnosis and adequate therapy might delay but not prevent the progression of retinal complications. Late diagnosis with severe symptoms at diagnosis, neonatal hypoglycaemia and frequent decompensations may increase the progression rate of the chorioretinopathy. LCHAD deficiency, a potentially lethal disease, is sometimes difficult to diagnose. Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal hypoglycaemia or failure to thrive.
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| 8. |
- Fahnehjelm, Kristina Teär, et al.
(författare)
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Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency
- 2012
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Ingår i: Acta ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 90:1, s. 32-43
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Tidskriftsartikel (refereegranskat)abstract
- Abstract. 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 12.8 years (range 3.1-23.4). Results: Twelve of 13 patients had visual impairment and/or ocular pathology. Four of 10 patients who co-operated in visual assessment had a best corrected decimal visual acuity of A mutation in mitochondrial DNA. Only one patient had normal visual acuity and ocular outcome including refraction and visual fields. Follow-up time was median 3.0 years (range 0-11). Conclusion: Visual impairment, ocular motility problems and OA are common in children and young adults with complex I deficiency and should prompt the paediatric ophthalmologist to consider mitochondrial disorders.
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- Inamoto, Y., et al.
(författare)
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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
- 2019
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Ingår i: Biology of Blood and Marrow Transplantation. - : Elsevier BV. - 1083-8791. ; 25:5, s. E145-E154
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Tidskriftsartikel (refereegranskat)abstract
- 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. We summarize the incidence, risk factors, screening, prevention, and treatment of individual complications and generate evidence-based recommendations. Baseline ocular evaluation before HCT should be considered in all patients who undergo HCT. Follow-up evaluations should be considered according to clinical signs and symptoms and risk factors. Better preventive strategies and treatments remain to be investigated for individual ocular complications after HCT. Both transplantation physicians and ophthalmologists should be knowledgeable about nonGVHD ocular complications and provide comprehensive collaborative team care. (C) 2018 American Society for Blood and Marrow Transplantation.
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| 10. |
- Inamoto, Y., et al.
(författare)
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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
- 2019
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Ingår i: Bone Marrow Transplantation. - : Springer Science and Business Media LLC. - 0268-3369 .- 1476-5365. ; 54:5, s. 648-661
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Tidskriftsartikel (refereegranskat)abstract
- 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. 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. We have summarized incidence, risk factors, screening, prevention and treatment of individual complicastions and generated evidence-based recommendations. Baseline ocular evaluation before HCT should be considered in all patients who undergo HCT. Follow-up evaluations should be considered according to clinical symptoms, signs and risk factors. Better preventive strategies and treatments remain to be investigated for individual ocular complications after HCT. Both transplant physicians and ophthalmologists should be knowledgeable of non-GVHD ocular complications and provide comprehensive collaborative team care.
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