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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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- Jugård, Ylva, et al.
(författare)
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Anoftalmi och mikroftalmi kräver multidisciplinär vård: Många av barnen har även andra medicinska problem : [Anophthalmia and microphthalmia requires multidisciplinary care. Many of the children also have other medical problems]
- 2015
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Ingår i: Läkartidningen. - : Läkartidningen Förlag AB. - 0023-7205 .- 1652-7518. ; 112:27-28
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Tidskriftsartikel (refereegranskat)abstract
- Anoftalmi och mikroftalmi är kongenitala ögonmissbildningar med heterogen bakgrund.Ögonprotesbehandling stimulerar orbital tillväxt och förhindrar ansiktsasymmetri.Anoftalmi och mikroftalmi förekommer isolerat eller kombinerat med annan okulär och extraokulär patologi, t ex hjärtfel, hörselnedsättning och påverkan på psykomotorisk utveckling, vilket kan tyda på syndromalt tillstånd.Multidisciplinärt omhändertagande är viktigt.Ögonläkare bör utreda med ultraljud, eventuellt visuellt framkallat svar (visual evoked potential; VEP) och MR-undersökning av CNS och orbita samt följa det andra ögats synutveckling. Dessutom bör ögonprotesbehandling initieras (om möjligt redan vid 3 månaders ålder), barnläkarbedömning och hörselundersökning göras och genetisk utredning och rådgivning erbjudas.
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- 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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