| 1. |
- Almutairi, Faris, et al.
(författare)
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Congenital stationary night blindness : an update and review of the disease spectrum in Saudi Arabia
- 2021
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 99:6, s. 581-591
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Forskningsöversikt (refereegranskat)abstract
- Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone–rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone–rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.
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| 2. |
- Armonaite, Laura, et al.
(författare)
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Seventy-one cases of uveitis-glaucoma-hyphaema syndrome
- 2021
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Ingår i: Acta Ophthalmologica. - : John Wiley & Sons. - 1755-375X .- 1755-3768. ; 99:1, s. 69-74
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To assess Uveitis-Glaucoma-Hyphaema syndrome (UGH syndrome) with focus on resolution, glaucoma development and risk factors.METHODS: This retrospective case-control study with a cross-sectional component was performed to compare three groups with 71 patients each: UGH syndrome, dislocated intraocular lens (IOL) without UGH syndrome and ordinary pseudophakia. Main outcome measures were resolution of the UGH syndrome, best-corrected visual acuity (BCVA) and the need of glaucoma therapy. We also assessed the IOL-iris contact signs and the use of blood thinners.RESULTS: Uveitis-Glaucoma-Hyphaema (UGH) syndrome resolved in 77 % of patients who underwent various kind of IOL surgery. Intraocular pressure (IOP) decreased and BCVA improved in the operated cases (p = 0.02 and p < 0.001, respectively), but not in the cases treated conservatively. Intraocular pressure (IOP) ≥22 mmHg at the first haemorrhage predicted the need of glaucoma therapy after UGH syndrome resolution (p = 0.002, area under the curve = 0.8). Fifty-one per cent of patients without preexisting glaucoma needed glaucoma therapy after UGH syndrome resolution. Pseudophacodonesis was seen more frequently in the UGH group than in the ordinary pseudophakia group (p = 0.001). Iris defects were not more frequent in the UGH group than in the Dislocated group but the types of defects differed (p < 0.0001). Blood thinners were not more frequent in UGH.CONCLUSION: In UGH syndrome, the results are better with surgical intervention than with conservative treatment, but surgery does not guarantee resolution. Pseudophacodonesis is a risk factor for UGH syndrome, but blood thinners are not, and iris defects are not specific to UGH syndrome. A high IOP at the first haemorrhage increases the risk for needing subsequent IOP-lowering therapy.
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| 3. |
- Ayala, Marcelo, 1965, et al.
(författare)
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Single nucleotide polymorphisms in LOXL1 as biomarkers for progression of exfoliation glaucoma in Sweden
- 2023
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 101:5, s. 521-529
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Exfoliation glaucoma is a common and aggressive type of glaucoma with high prevalence in Scandinavia. The aim of this study was to elucidate whether the allele frequencies of two single nucleotide polymorphisms (SNPs) located in LOXL1 were associated with the progression of exfoliation glaucoma in Swedish patients. Methods: In this non-randomised cohort study, we enrolled patients with exfoliation glaucoma, and they performed at least five reliable visual field tests. Blood samples were collected, and genotyping was performed using competitive allele-specific PCR genotyping. Glaucoma progression was evaluated using the guided glaucoma progression analysis (GPA), mean deviation (MD) difference and rate of progression (ROP). In addition, associations between allele frequencies and glaucoma progression were tested using logistic regression for GPA and linear regression for MD and ROP. Results: We enrolled a total of 130 patients in the study. The general genetic model showed statistical significance for LOXL1_rs2165241 (p=8 × 10−7, Fisher's exact test) and LOXL1_rs1048661 (p=2 × 10−6, Fisher's exact test). Regression analyses using an additive genetic model showed significant values for LOXL1_rs2165241SNP in relation to GPA, MD and ROP as outcomes (p=1.8 × 10−4, 4 × 10−2, 6 × 10−4) and for LOXL1_rs1048661 SNP in relation to GPA, MD and ROP (p=7 × 10−5, 8 × 10−3, 2 × 10−4). Conclusions: This was the first study to show an association of the SNPs LOXL1_rs2165241 and LOXL1_rs1048661 with the progression of exfoliation glaucoma. Further large-scale studies are required to verify these findings.
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| 4. |
- Belitsky, Y., et al.
(författare)
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Late-onset glaucoma following congenital cataract surgery: Occurrence, visual acuity and risk factors: A 37-year longitudinal follow-up
- 2022
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768.
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Tidskriftsartikel (refereegranskat)abstract
- Purpose The aim of this study was to determine the prevalence of late-onset glaucoma after surgery for congenital cataract in a cohort with long-term follow-up and to evaluate visual development following the diagnosis of postoperative glaucoma in comparison with no glaucoma development. Methods All children born between 1980 and 1997 in the western counties of Sweden who had undergone congenital cataract surgery were included (patients n = 77, eyes n = 122). Cataract was considered congenital if there was no proof of clear lens at birth. Medical records were reviewed with regard to onset of glaucoma, age at surgery, surgical technique, coexisting eye anomalies and changes in visual acuity. Glaucoma was considered late onset if occurring after 1 year following surgery. Results Total glaucoma prevalence was 14.8%, including late (10.7%) and early onset (4.1%), with a mean follow-up of 23.2 +/- 6.6 years. Microphthalmos was a significant risk factor for developing glaucoma (RR 7.75, p < 0.001). Bilaterally treated eyes had a mean visual acuity of 0.43 +/- 0.33 (decimal value) at the last follow-up. With glaucoma, mean visual acuity was 0.19 +/- 0.17 (decimal value). Treated eyes of patients with unilateral cataract surgery had a lower visual acuity. Conclusions Life-long follow-up of all patients who have undergone surgery for congenital cataract in childhood is recommended. Annual check-ups of adults, including measurements of IOP and visual acuity, are recommended for patients with microphthalmos and/or who had surgery <3 months of age.
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| 5. |
- Bengtsson, Boel, et al.
(författare)
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The glaucoma intensive treatment study : interim results from an ongoing longitudinal randomized clinical trial
- 2022
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Ingår i: Acta Ophthalmologica. - : John Wiley & Sons. - 1755-375X .- 1755-3768. ; 100:2, s. e455-e462
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The aim of the study was to determine the perimetric rate of glaucoma progression in the ongoing Glaucoma Intensive Treatment Study (GITS) after 3 years of follow-up.Design: This is a randomized, two-centre, prospective open-labelled treatment trial for open-angle glaucoma (OAG). Participants The participants of this study were treatment-naive patients with newly diagnosed OAG, aged 46-78 years, with early to moderate glaucomatous visual field loss scheduled to be followed for 5 years within the study.Methods: Patients were randomized to initial treatment with either topical monotherapy or with an intensive approach using drugs from three different classes, plus 360 degrees laser trabeculoplasty. Changes in treatment were allowed. Standard automated perimetry and tonometry were performed and side-effects documented. All results are presented using intention-to-treat analysis.Results: A total of 242 patients were randomized. After 3 years of follow-up, eight patients were lost to follow-up, six of whom were deceased. The median untreated baseline intraocular pressure (IOP) was 24 mmHg in both arms. The median IOP was almost constant over the 3 years of follow-up: approximate to 17 mmHg in the mono-arm and approximate to 14 mmHg in the multi-treatment arm. Treatment was intensified in 42% of the mono-treated patients and in 7% of the multi-treated patients. Treatment was reduced in 13% of the multi-treated patients. The median perimetric rate of progression was -0.5%/year in the mono-treated group and -0.1%/year in the multi-treated group (p = 0.03).Conclusion: The rate of disease progression was significantly slower in the multi-treated patients than in the mono-treated patients. Further follow-up will show whether this difference is sustained over time.
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| 6. |
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| 7. |
- Boulakh, Lena, et al.
(författare)
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Thyroid dysfunction and exudative age-related macular degeneration - A longitudinal nationwide registry-based cohort study
- 2024
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Ingår i: ACTA OPHTHALMOLOGICA. - 1755-375X .- 1755-3768.
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The association between thyroid dysfunction and exudative age-related macular degeneration (AMD) is unknown. Methods: In this Danish longitudinal nationwide registry-based cohort study we included all Danish residents aged 50-100 between 2008 and 2018. Using the Danish national registries, we studied the association between thyroid dysfunction and exudative AMD. Thyroid dysfunction was classified as two consecutive redeemed prescriptions of thyroid hormones (hypothyroidism) or anti-thyroid medication (hyperthyroidism). Exudative AMD was classified as an ICD diagnosis of AMD and a code for anti-VEGF treatment. All patients are treated for exudative AMD in a hospital in Denmark, and we therefore have complete registration of this patient group. Results: We included 2 087 305 individuals, of which 1 072 567 (51.4%) were women; 59 318 (2.8%) had hypothyroidism, and 33 922 (1.6%) had hyperthyroidism. During a median follow-up of 11 years, 26 998 (1.3%) people developed exudative AMD. Hypothyroidism (adjusted hazard ratio [HR]: 1.17; 95% confidence interval [CI] 1.10-1.25; p < 0.001) and hyperthyroidism (HR: 1.23; 95% CI:1.13-1.34; p < 0.001) were both associated with the development of exudative AMD. The age-stratified analyses yielded similar results to the main analyses, except that the risks were exaggerated in the older part of the population. Conclusion: This is the first longitudinal nationwide study showing that both hypo- and hyperthyroidism are associated with an increased risk of exudative AMD. AMD is a quantitative problem in the population and our findings could have a public health impact. Further studies are needed to study the underlying mechanisms of the association.
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| 8. |
- Boulakh, L., et al.
(författare)
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Topical anaesthesia in strabismus surgery for Graves' orbitopathy: a comparative study of 111 patients
- 2022
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 100:4, s. 447-453
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To evaluate the tolerability and usability of topical anaesthesia in single rectus muscle recession for strabismus caused by Graves' orbitopathy (GO). To compare the perioperative pain score and surgical outcome between GO patients and non-GO patients. Methods A retrospective comparative study of consecutive single rectus muscle recession performed under topical anaesthesia was carried out. All patients scheduled for one-stage single rectus muscle recession under topical anaesthesia were included. Numerical visual analogue pain score scale (NVAS) points, rates of motor success (horizontal deviation < 8 prism diopters (PD) and vertical deviation <= 6 PD) and sensory success (no diplopia without prisms), complications and postoperative adjustment frequencies were compared between GO and non-GO patients. Results A total of 111 patients were included. The mean perioperative pain scores were 2.3 (SD +/- 1.3) in GO and 1.6 (SD +/- 1.1) in non-GO patients (p = 0.06 adjusted for gender). The postoperative mean alignments in GO and non-GO patients were 2 versus 3 PD horizontally and 1 versus 1 PD vertically respectively. Both motor and sensory success rates were 98% in GO patients and 94% versus 93% in non-GO patients. Adjustments as a second procedure the day after surgery was performed in 10% of the GO patients and 15% of the non-GO patients. The oculocardiac reflex was not triggered in any of the GO patients. Conclusion Topical anaesthesia in single muscle recession for GO is safe, well-tolerated and gives comparable surgical outcomes to those achieved in non-GO patients.
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| 9. |
- Bro, Tomas
(författare)
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Benjamin Esterman (1906–1994) and the binocular visual field scoring grid that became a world standard for assessing driver eligibility
- 2022
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 100:7, s. 828-833
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Tidskriftsartikel (refereegranskat)abstract
- The visual field grid developed by the ophthalmologist Benjamin Esterman (1906-1994) is today an accepted standard for assessing driver eligibility in many parts of the world. However, little is published about the scientific process that led to the test or about the person who developed it. The aim of this article is to portray the ophthalmologist Benjamin Esterman, and to discuss the visual field grid with his name and its current role in assessing driving eligibility.
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| 10. |
- Bro, Tomas, et al.
(författare)
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Shared burden is always lighter - Peer-review performance in an ophthalmological journal 2010-2020
- 2021
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768.
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Tidskriftsartikel (refereegranskat)abstract
- PurposeThere are concerns in the academic publishing community that it is becoming more difficult to secure reviews for scientific manuscripts. This study examines trends in editorial and peer review processes in an ophthalmological journal over the last decade.MethodsA retrospective analysis was performed of editorial data from the journal Acta Ophthalmologica containing all manuscript submissions between 2010 and 2020.ResultsThe number of yearly submissions grew between 2010 and 2019 from 1014 to 1623, and in 2020, the number of submissions increased to 2449. In total, the number of submissions increased by 142% between 2010 and 2020. Similarly, the proportion of desk-rejected manuscripts increased from 48% to 67% during the period 2010–2020. The number of invitations needed to obtain one review showed an increase from 1.9 to 2.6 between 2010 and 2019, but remained stable between 2019 and 2020. However, the number of reviewers per reviewed manuscript, reviewed manuscripts per reviewer and time from invitation to completed review assignment remained almost constant between 2010 and 2020. Researchers based in North American were disproportionally often invited to review (18%) compared to their share of published articles (7%), and they also declined review invitation more frequently compared to scholars in other parts of the world.ConclusionsThe study revealed an increase in submitted manuscripts to an ophthalmological journal over the last decade, with a further increase during the COVID-19 pandemic. The number of reviewer invitations needed to obtain one review grew during the study period but remained constant between 2019 and 2020, despite a vast increase in submitted manuscripts. Hence, the burden for unique reviewers did not increase. Instead, the proportion of desk-rejected manuscripts grew, and the reviewer pool expanded, which allowed the annual average number of reviews by individual reviewers to remain stable.
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