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- Casslén, Beatrice, et al.
(författare)
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Visual function and quality of life in children and adolescents with anophthalmia and microphthalmia treated with ocular prosthesis
- 2020
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 98:7, s. 662-670
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To evaluate health-related quality of life (HR-QoL), vision-related (VR-)QoL and perceptual visual dysfunction (PVD) among individuals with anophthalmia (A) and microphthalmia (M) treated with ocular prosthesis. Methods The study comprised 15 individuals (mean age 6.6 years; range 1.7-14.1) with unilateral A or M. Three validated instruments measuring HR-QoL and VR-QoL were used: The Pediatric QoL Inventory (PedsQL), consisting of physical and psychosocial self-report and parent-proxy report (2-18 years); Children's Visual Function Questionnaire (CVFQ); and Effects of Youngsters' Eyesight on Quality of Life (EYE-Q). Perceptual visual dysfunctions (PVDs) were assessed by history taking according to a specific protocol. Results A/M children and their parents showed low HR-QoL scores (PedsQL total score: 66.3; 69.6) compared with controls (83.0; 87.61) (p = 0.0035 and <0.0001, respectively, unpaired t-test). No differences were found between A/M children and parents, but parents tended to underestimate their children's emotional state. A/M children with subnormal visual acuity (VA) for age scored lower in physical health compared with A/M children with normal VA (p = 0.03, Mann-Whitney U-test). No significant VR-QoL differences between A/M children and references or between A/M children with subnormal or normal VA for age were found. More A/M children than controls exhibited PVDs in >= 1 area (7/11 versus 4/118; p < 0.0001, Fisher's exact test). Conclusion A/M individuals show poor HR-QoL and increased PVDs. No difference in QoL was found between children and parents, though the children tended to score lower in emotional well-being. A/M children with subnormal VA showed lower physical health score. These problems indicate the necessity of a thorough multidisciplinary assessment and follow-up of children with A/M.
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| 3. |
- Najim, Rezhna Taha, et al.
(författare)
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Quality of life and functional vision in adolescents with surgically treated hydrocephalus in infancy
- 2024
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Ingår i: Acta Paediatrica. - : Wiley-Blackwell. - 0803-5253 .- 1651-2227.
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To evaluate health- and vision-related quality of life (HR- and VR-QoL) and perceptual visual dysfunction (PVD) in adolescents with hydrocephalus surgically treated in infancy.METHODS: In total, 23 adolescents (15 males and 8 females; median age 14.9 years) with hydrocephalus and 31 controls were evaluated using validated instruments to measure HR-QoL and VR-QoL. PVDs were reported by history taking in five areas: recognition, orientation, depth, movement and simultaneous perception.RESULTS: Adolescents with hydrocephalus and the parent proxy reports showed lower mean total Paediatric Quality of Life Inventory 4.0 scores (75.8 and 63.7, respectively) compared with controls (87.6 and 91.5), p = 0.016 and p < 0.0001. Parent-reported scores were lower than self-reported scores (p = 0.001). Adolescents with myelomeningocele (n = 10) showed lower physical health scores (p = 0.001). No VR-QoL difference was found between groups. PVDs were reported in ≥1 area by 14/23 hydrocephalus participants and 2/31 controls (p < 0.0001). Associations were found in the hydrocephalus group between VR-QoL and HR-QoL (rs = 0.47, p = 0.026) and number of PVD areas (rs = -0.6, p = 0.003).CONCLUSION: Adolescents with hydrocephalus and their parents reported lower HR-QoL and more PVDs. These problems indicate the need for not only ophthalmological follow-ups but also evaluation of QoL and PVDs in individuals with infantile hydrocephalus.
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| 5. |
- Najim, Rezhna Taha, et al.
(författare)
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Thinner peripapillary retinal nerve fibre layer and macular retinal thickness in adolescents with surgically treated hydrocephalus in infancy
- 2022
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 100:6, s. 673-681
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To map the morphology of the retina and optic disc in adolescents with surgically treated hydrocephalus (HC) in infancy and to compare the results with healthy controls. Methods The study comprised 26 adolescents (16 male, mean age 15 years) with HC and 31 sex- and aged-matched controls. The following optical coherence tomography (OCT) parameters were obtained: macular retinal thickness (MRT) and volume (MRV), thickness of the macular and peripapillary retinal nerve fibre layer (ppRNFL), and area of the optic disc, cup and rim. Results The MRT was thinner amongst those with HC compared with controls (right eye (RE) 262.2 +/- 15.3 and 275.8 +/- 15.1 mu m; p = 0.0051), and the MRV was smaller (RE 7.37 +/- 0.36 and 7.83 +/- 0.35 mm(3); p = 0.0002). The HC group showed a thinner ppRNFL (RE 88.3 +/- 14.9 and 103.5 +/- 8.1 mu m; p = 0.0002) but a thicker central macular RNFL (RE 11.6 +/- 10.4 and 2.07 +/- 3.00 mu m; p = <0.0001) and foveal minimum (RE 211.1 +/- 32.0 and 186.3 +/- 15.9 mu m; p = 0.0013). Optic disc variables showed no difference between groups. Correlations were found in the HC group between best corrected visual acuity (expressed in logMAR) and ppRNFL (RE r = -0.56, p = 0.018), and disc area (RE r = -0.52, p = 0.033). Conclusion Thinner ppRNFL and MRT and smaller MRV were found in adolescents with surgically treated HC in infancy compared with controls. In contrast, the central macular RNFL and foveal minimum were thicker. Further studies are required to evaluate the diagnostic value of OCT to indicate increased intracranial pressure timely and follow-up in individuals with surgically treated HC.
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| 7. |
- Taha Najim, Rezhna, et al.
(författare)
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Children and young adults with anophthalmia and microphthalmia : Diagnosis and Management
- 2020
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Ingår i: Acta Ophthalmologica. - : John Wiley & Sons. - 1755-375X .- 1755-3768. ; 98:8, s. 848-858
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of children and young adults with A/M treated with ocular prosthesis, emphasizing clinical features, diagnosis, treatment, and follow-up.METHODS: Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.5 years (range 0.8-31.8) and treated with ocular prosthesis were included. Data on medical history, clinical examinations and management of ocular prosthesis were collected. Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed.RESULTS: A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detected in TFAP2A, CHD7, FOXE3 and BCOR-genes. In one patient, a possibly causal microdeletion 10q11 was shown. Associated ocular anomalies such as cataract and cysts were found in 16 (89%) of the A/M eyes, and in nine (50%) ophthalmological findings were found in the fellow eyes. The median ages at which the conformer and ocular prosthesis first were initiated were 7.8 months and 1.5 years. 16/17 patients fulfilled satisfactory orbital growth and cosmetic results when treated with ocular prosthesis from an early age.CONCLUSION: Based upon our findings, a multidisciplinary approach, including genetic assessment, is necessary to cover all aspects of A/M. Imaging, ultrasound and visual evoked potentials should be included. Early management is crucial for the outcome, in terms of non-ocular findings, vision in the fellow eye, and for facial cosmetic development.
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