1. |
|
|
2. |
- Chibani, Zohra, et al.
(författare)
-
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families
- 2019
-
Ingår i: Clinical and Experimental Ophthalmology. - : Wiley-Blackwell Publishing Inc.. - 1442-6404 .- 1442-9071. ; 47:8, s. 1063-1073
-
Tidskriftsartikel (refereegranskat)abstract
- BackgroundEpidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of the current study was to investigate the clinical characteristics and the underlying genetics of these two forms of macular dystrophy.MethodsComplete ophthalmic examination was performed including optical coherence tomography, electroretinography, electrooculography and autofluoresence imaging in all patients. Genomic DNA was extracted from peripheral blood collected from patients and family members.ResultsSanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N‐terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C‐terminal domain segregating in the BVMD family.ConclusionsSeveral mutations of the BEST1 gene have been reported which are responsible for numerous ocular pathologies. To the best of our knowledge, it is the first time we report mutations in this gene in Tunisian families presenting different forms of macular dystrophy. Our report also expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.
|
|
3. |
- Daley, Jason R., et al.
(författare)
-
Development of a deep learning algorithm for provision of a South Western Sydney diabetes retinal screening service
- 2022
-
Ingår i: Clinical and Experimental Ophthalmology. - : Blackwell Publishing. - 1442-6404 .- 1442-9071. ; 49:8, s. 805-805
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Purpose: Diabetic retinopathy (DR) is highly prevalent in the multi-ethnic and low socioeconomic population of South Western Sydney. This is a significant public health burden, demanding efficient and cost-effective diabetes retinal screening. The multi-centre South Western Eye and Diabetes Deep Learning Algorithm study, supported by an Ophthalmic Research Institute of Australia grant, aims to develop and validate a novel deep learning algorithm, capable of grading DR, for a new diabetes retinal screening service. This abstract evaluates the performance of the Diabetic retinopathy OCT Open souRce Artificial Intelligence (Doctor AI©SK) program.Methods: Doctor AI analyses fundus photographs and optical coherence tomography (OCT) images simultaneously to grade diabetic retinopathy. It was trained with over 50,000 fundus photographs and 8000 OCT scans, using a combination of Australasian and publicly available datasets. As a screening tool, the algorithm's operating point was optimised for sensitivity and negative predictive value, and its performance reevaluated. Clinical validation is being undertaken in the recruited population at each study site.Results: For the detection of diabetic macula oedema from OCT images, Doctor AI achieved a 96.8% sensitivity, 98.1% specificity and 97.5% accuracy. Area under the receiver operating characteristic curve was 0.996. For the diagnosis of DR from fundus photographs, Doctor AI achieved a 90.4% sensitivity, 96.8% specificity and 88.9% accuracy. Preliminary clinical validation revealed an accuracy of 89% and 85% for the OCT and fundus photograph modules of the algorithm, respectively.Conclusion: Doctor AI is a unique deep learning algorithm capable of diagnosing DR and diabetic macula oedema with high sensitivity and accuracy.
|
|
4. |
- Hao, Jie, et al.
(författare)
-
Cerebrospinal fluid and optic nerve sheath compartment syndrome : A common pathophysiological mechanism in five different cases?
- 2020
-
Ingår i: Clinical and Experimental Ophthalmology. - Australia : WILEY. - 1442-6404 .- 1442-9071. ; 48:2, s. 212-219
-
Tidskriftsartikel (refereegranskat)abstract
- Importance Optic nerve (ON) dysfunction is a common feature of different diseases. The pathophysiology is not yet fully understood. Background This study describes five patients with ON sheath (ONS) compartment syndrome (ONSCS) and contributes to the hypothesis that impaired cerebrospinal fluid (CSF) flow can play a role in the development of ON dysfunction. Design Retrospective case series. Participants Five patients with ONSCS were included in the study. Methods Elaboration of medical histories and clinical and diagnostic findings over a long time period was carried out by analysing medical records and by a detailed medical consultation. Main Outcome Measures The main outcome measures include clinical history; visual acuity; field, intraocular and CSF pressures; and contrast-loaded computed tomographic (CT) cisternography. Results Compartmentation of the ONS demonstrated by contrast-loaded CT cisternography was the consistent finding in all five patients who demonstrated findings of ON dysfunction. The aetiologies varied and included meningitis, papilloedema, sphenoid wing meningioma, disc herniation and normal-tension glaucoma. Conclusion and Relevance Compartmentation of the ONS with consecutively impaired CSF dynamics within the ON subarachnoid space can lead to ON dysfunction. Different aetiologies can cause the development of ONSCS.
|
|
5. |
|
|
6. |
|
|
7. |
|
|
8. |
- Makdoumi, Karim, 1977-, et al.
(författare)
-
Photodynamic UVA-riboflavin bacterial elimination in antibiotic-resistant bacteria
- 2016
-
Ingår i: Clinical and Experimental Ophthalmology. - : Wiley-Blackwell. - 1442-6404 .- 1442-9071. ; 44:7, s. 582-586
-
Tidskriftsartikel (refereegranskat)abstract
- Background: To evaluate the bactericidal effect of clinical ultraviolet A (UVA) settings used in photoactivated chromophore for infectious keratitis (PACK)-collagen cross-linking (CXL) in antibiotic-resistant and non-resistant bacterial strains.Methods: Well-characterized bacterial strains from clinical isolates, without and with antibiotic resistance, were studied in a pairwise comparison. The evaluated pathogens were Staphylococcus epidermidis, Staphylococcus aureus, Pseudomonas aeruginosa, and Enterococcus faecalis. Bacteria were dispersed in PBS and diluted to a concentration of approximately 4x10(5)/ml. Riboflavin was added to a concentration of 0.01%. By spreading the solution on a microscope slide, a fluid film layer, with a thickness of around 400mm, was formed and UVA exposure followed. Eight separate exposures were made for each strain (n=8). The degree of elimination in resistant and non-resistant pathogens was compared.Results: The bactericidal efficacy of exposure differed between the tested microorganisms, and the mean elimination ranged between 60 and 92%, being most extensive in both of the evaluated Pseudomonas strains and least in the E. faecalis strains. Similar reductions were seen in antibiotic-resistant and non-resistant strains, with the exception of S. aureus, in which the resistant strain metchicillin-resistant Staphylococcus aureus (MRSA) was eradicated in a greater extent than the non-resistant strain (P=0.030).Conclusion: UVA-riboflavin settings used in PACK-CXL are effective in reducing both antibiotic-resistant and non-resistant bacteria. Antibiotic resistance does not appear to be protective against the photooxidative exposure.
|
|
9. |
- Olofsson, Eva Maria, 1975-, et al.
(författare)
-
Enhanced age-related cataract in copper-zinc superoxide dismutase null mice
- 2012
-
Ingår i: Clinical and Experimental Ophthalmology. - : Wiley-Blackwell. - 1442-6404 .- 1442-9071. ; 40:8, s. 813-820
-
Tidskriftsartikel (refereegranskat)abstract
- Background: As the lens is constantly exposed to light and oxygen that generate harmful reactive oxygen species, the importance of the intracellular antioxidant enzyme copper-zinc superoxide dismutase for the protection against age-related cataract development was explored.Methods: The development of lens opacities and the lens oxidative status were studied in different age groups of mice lacking copper-zinc superoxide dismutase and in wild-type mice. The lens opacities were quantified from lens photographs using digital image analysis. Thereafter, the lenses were homogenized and analysed regarding their contents of reduced glutathione and protein carbonyls suggestive of protein oxidation.Results: The 18-week-old mice of both genotypes had clear lenses. At 1 year of age, the copper-zinc superoxide dismutase null mice had developed cortical lens opacities, whereas the wild-type mice did not show equivalent changes until 2 years of age. The lens contents of glutathione decreased only in the 2-year-old wild-type mice, whereas the carbonyls increased over time without any differences between the two genotypes.Conclusions: This study indicates that the lack of copper-zinc superoxide dismutase may accelerate age-related lens opacity development and that intracellular superoxide-derived oxidative stress may be damaging to the lens during ageing. Participation of the anti-oxidant enzyme copper-zinc superoxide dismutase in the protection against age-related cataract was thus suggested.
|
|
10. |
- Wang, Xingdi, et al.
(författare)
-
Establishing a diabetes retinal screening service in South Western Sydney : Patient satisfaction with retinal imaging and the correlation between diabetic retinopathy and quality of life
- 2022
-
Ingår i: Clinical and Experimental Ophthalmology. - : Blackwell Publishing. - 1442-6404 .- 1442-9071. ; 49:8, s. 899-900
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Purpose: The multicentre, prospective South Western Eye and Diabetes Deep Learning Algorithm study has developed a new diabetes retinal screening service, incorporating a novel deep learning algorithm, for a low socio-economic, multi-ethnic, outer-metropolitan Sydney region. This preliminary report examines patient satisfaction with retinal imaging and correlation between diabetic retinopathy (DR) and quality of life (QOL).Methods: Supported by an Ophthalmic Research Institute of Australia grant, South Western Eye and Diabetes Deep Learning Algorithm participants were recruited from diabetes outpatient clinics and underwent two-field, table-top fundus photography and ocular coherence tomography. Questionnaires regarding patient satisfaction with retinal imaging and self-perceived QOL (EQ5D) were completed. Proportion of participants with high satisfaction levels were reported and mean self-perceivedQ OL (EQ-VAS) scores for those with and without DR were compared.Results: The study is ongoing and preliminary data (n=54) is presented. DR was detected in 50.0% of recruited participants. All participants found it very convenient to undergo photography on the same day as their diabetes appointment and 83.3% would undergo retinal imaging for DR screening again. This was despite 50.0% of participants requiring pharmacological pupil dilation. Preliminary QOL data showed that although DR did not correlate with greater disability, pain or anxiety/depression, average self-perceived health was lower (mean EQ-VAS scores of 68.3% vs 76.3%) in participants with DR than those without DR.Conclusions: The correlation between DR and lower self-perceived QOL, occurring independently of both visual acuity and knowledge of DR diagnosis, supports the need for efficient screening and early treatment. Retinal imaging was well-tolerated with an overwhelming preference for same-day outpatient DR screening.
|
|