Acta Ophthalmologica最新文献

Purpose: To investigate the diagnostic performance of ultrasound, 2-deoxy-2-[¹⁸F]fluoro-D-glucose positron emission tomography/computed tomography (2-[¹⁸F]FDG PET/CT) and temporal artery biopsy (TAB) in giant cell arteritis (GCA).

Methods: This was a prospective single-centre diagnostic accuracy study (ClinicalTrials.gov NCT05248906). One hundred and ten patients suspected of GCA were considered, of which 103 were analysed, 100 had a final diagnosis and 58 had complete data for all modalities. Ultrasound, 2-[¹⁸F]FDG PET/CT and TAB were performed after clinical examination and blood sampling. The main outcome included diagnostic accuracy measures with final clinical expert diagnosis at 6-month follow-up as the comparator.

Results: Sixty-one patients had GCA, 39 had non-GCA and 3 had inconclusive. The sensitivities were 82% (95% CI: 66%-92%), 74% (95% CI: 57%-87%) and 68% (95% CI: 51%-83%) for ultrasound, 2-[¹⁸F]FDG PET/CT and TAB, respectively. The corresponding specificities were 90% (95% CI: 68%-99%), 100% (95% CI: 83%-100%) and 100% (95% CI: 83%-100%), the positive predictive values 94% (95% CI: 81%-98%), 100% (95% CI: 88%-100%) and 100% (95% CI: 87%-100%), the negative predictive values 72% (95% CI: 57%-84%), 67% (95% CI: 54%-77%) and 63% (95% CI: 51%-73%) and accuracies 85% (95% CI: 73%-93%), 83% (95% CI: 71%-91%) and 79% (95% CI: 67%-89%). When ultrasound was inconclusive, 2-[¹⁸F]FDG PET/CT had a higher sensitivity of 75% (95% CI: 35%-97%) vs. 38% (95% CI: 9%-76%) for TAB, with equal specificity of 100% (both 95% CI: 69%-100%). Results were inconclusive in 22 of 99 ultrasounds, 3 of 102 2-[¹⁸F]FDG PET/CTs and 4 of 90 TABs.

Conclusion: Ultrasound had high diagnostic accuracy for GCA, supporting this as the first imaging modality in suspected GCA. 2-[¹⁸F]FDG PET/CT combined a high diagnostic accuracy with fewer inconclusive results, suggesting it may be used for second-line testing when ultrasound is inconclusive, reserving TAB for third-line testing. A fast-track setup may facilitate efficient diagnostics.

Purpose: To examine the association between refractive errors and self-reported visual function and visual concern, considering self-perceived present eyesight, concerns about vision, accomplishing less and limitations in daily activities in an eye-healthy cohort.

Methods: A cross-sectional design was used, drawing upon data from a Danish eye and vision cohort, Project FOREVER. Data included refractive measurements and questionnaire responses from participants aged 18 years and above. Logistic regression was applied to investigate the association between self-reported visual function, visual concern and refractive measurements. Refraction was grouped based on spherical equivalent values. Participants were defined as eye-healthy without the presence of self-reported eye disease and a visual acuity of 0.8 or above.

Results: Analyses were done on data from 42 741-42 879 participants (considering only complete responses for each model) and showed that high refractive errors (≤ -6 D and ≥ +6 D) were significantly associated with diminished self-reported visual function and visual concern. High myopia was associated with lower self-perceived present eyesight (OR = 1.89, 95% CI: 1.69-2.11, p < 0.001), increased vision concerns (OR = 1.78, 95% CI: 1.59-1.99, p < 0.001), reduced self-perceived accomplishment (OR = 1.14, 95% CI: 1.01-1.28, p < 0.05) and greater vision-related limitations (OR = 1.44, 95% CI: 1.28-1.61, p < 0.001). High hypermetropia was similarly associated with lower self-perceived present eyesight (OR = 4.23, 95% CI: 3.05-5.87, p < 0.001), increased vision concerns (OR = 2.15, 95% CI: 1.51-3.07, p < 0.001), reduced self-perceived accomplishment (OR = 2.83, 95% CI: 1.99-4.01, p < 0.001) and greater vision-related limitations (OR = 2.78, 95% CI: 1.94-3.97, p < 0.001).

Conclusion: The present findings demonstrate a statistically significant negative correlation between high refractive errors and self-reported visual function as well as decreased visual concern. They provide a new perspective on the impact of high refractive errors and highlight the importance of further research aimed at preventing their development.

Purpose: To examine the age distribution and characteristics of choroidal nevi in a large nationwide sample.

Methods: We included all individuals who underwent fundus photography in a nationwide chain of optometry stores during a 5-week period in 2023. Non-mydriatic 45° or 60° digital fundus images were reviewed asynchronously by a subspecialized ocular oncologist. All images with suspected choroidal nevi, defined as a pigmented choroidal lesion of slate blue or green grey colour, were jointly re-examined by two ocular oncologists and subsequently reviewed by a third ocular oncologist for confirmation and detailed characterization. Age, sex and geographic distribution were correlated with demographic data from the predominantly white Danish population.

Results: Fundus images from 35 559 individuals aged 5-100 years (median, 54 years; interquartile range, 40-56 years) were included, representing 0.60% of the Danish population. Gradable images of both eyes were available in 31 129 participants, and at least one gradable image was available in 33 588 participants. In total, 852 nevi were identified, corresponding to a crude prevalence of 2.54% (95% CI 2.37%-2.71%). Prevalence increased during the first 5 decades of life (0%, 0.74%, 1.40%, 2.23%, 2.87%, 2.94%, 2.88%, 2.53% and 2.51% in individuals aged <10, 10-20, 20-30, 30-40, 40-50, 50-60, 60-70, 70-80 and >80 years, respectively). Median largest basal diameter of nevi was 1.75 mm (interquartile range 1.33-2.30) and was only weakly associated with age (R² < 0.01; p = 0.041). According to the MOLES system, most nevi were classified as common (90.8%) or low-risk (5.28%), with fewer graded as high-risk (2.70%) or probable melanoma (1.17%).

Conclusions: The prevalence of choroidal nevi increased throughout the first 5 decades of life. Most nevi were small and lacked risk factors for malignant transformation. This indicates that the emergence of a choroidal nevus can be expected to occur by the age of 50. If supported by longitudinal studies, these findings could inform risk-based surveillance strategies to optimize resource allocation.

Purpose: Age-related macular degeneration (AMD) is a leading cause of central vision loss in the elderly; however, the systemic factors that modulate its incidence and progression remain unclear. We sought to determine whether long-term use of systemic medications, including diabetes and antithrombotic medications, corticosteroids and immunosuppressants, is associated with the development of AMD.

Methods: The data included a pooled cohort of two follow-up studies: the Kuopio Osteoporosis Risk Factor and Prevention Study and the Kuopio Fall Prevention Study. A total of 16 518 women born between 1932 and 1946 living in eastern Finland were followed up between 1993 and 2021. The long-term medication use was indicated as ≥5 years of regular purchase of drugs. Incidence for AMD was analysed per long-term medication group, but also during the 5 years period in age matched groups.

Results: We observed increased odds for AMD among long-term users of systemic corticosteroids (HR 1.348, p < 0.001), immunosuppressants (HR 1.623, p = 0.004) and antithrombotic (HR 1.145, p = 0.042) medication. However, results with antithrombotic medications were not as consistent as with corticosteroids and immunosuppressants. Interestingly, the mean age at diagnosis of AMD was later among antithrombotic medication users compared to the control group (77.9 vs. 76.1, respectively, p < 0.001) and earlier among patients using other diabetes medications than metformin (75.3 vs. 77.1, p = 0.026).

Conclusions: People with long-term corticosteroid and immunosuppressant use are at greater risk for developing AMD. Further research on systemic components behind corticosteroid and immunosuppressant use, modulating AMD progression, is warranted.

Purpose: To determine the repeatability of keratometry and astigmatism measurements of patients depending on the tear film osmolarity using three different devices.

Methods: In this study, 97 eyes of 97 patients with a mean age of 64.92 ± 12.07 years received three repeated measurements with the IOLMaster 700 (Carl Zeiss Meditec, Jena, Germany), Pentacam AXL (Oculus Optikgeräte GmbH, Wetzlar, Germany) and Galilei G6 (Ziemer Ophthalmic Systems, Port, Switzerland). After that, tear film osmolarity was obtained with the TearLab Osmolarity System (TearLab Corporation, San Diego, CA, USA) for quantification of dry eye disease. Four groups were formed depending on tear film osmolarity: group 1 (<300 mOsm/L), group 2 (300-310 mOsm/L), group 3 (311-320 mOsm/L) and group 4 (>320 mOsm/L). Intraclass correlation coefficient (ICC) and vector analysis were calculated to assess the repeatability of keratometry and astigmatism measurements.

Results: ICC values for keratometry were 0.957 or higher in all osmolarity groups. Highest ICC values for astigmatism were in group 1 with the Pentacam (0.986) and in group 2 (0.979), group 3 (0.951) and group 4 (0.950) with the IOL-Master 700 respectively. Highest astigmatism ICC value for the Galilei G6 was 0.884 in group 4 and the lowest in group 3 (0.405). Vector analysis of astigmatism showed no statistically significant difference between the osmolarity groups and IOL-Master 700 (p = 0.947), Pentacam (p = 0.353) and Galilei G6 (p = 0.660).

Conclusion: Tear film osmolarity showed no consistent association with the repeatability of keratometry or astigmatism measurements for the IOLMaster 700 and Pentacam AXL whereas the Galilei G6 demonstrated lower repeatability overall.

Background: Structural and metabolic changes in the retina may serve as biomarkers in central nervous system disease. Optical coherence tomography studies have shown structural changes in the retina of patients with multiple sclerosis (MS). We aimed to find whether retinal oxygen levels are affected in MS patients and/or eyes with optic neuritis when compared with healthy subjects or unaffected fellow eyes.

Methods: We compared oxygen saturation in retinal blood vessels in MS patients and healthy controls. Oxygen saturation of haemoglobin was measured in retinal blood vessels with a spectrophotometric non-invasive retinal oximeter. Twenty-nine patients with MS, of whom 12 had a history of optic neuritis, were examined. Data were compared between the affected and non-affected optic neuritis eyes and 29 healthy individuals in a case-control study.

Results: Retinal vessel oxygen saturation was significantly increased in MS patients compared with healthy controls. Arteriolar saturation was 96.2% ± 3.6% in the MS cohort (mean ± SD, n = 29) and 93.8% ± 3.7% (n = 29, p = 0.017) in the healthy cohort. Venular saturation was 64.2% ± 5.0% in the MS cohort (n = 29) and 59.3% ± 6.0% (n = 29, p = 0.001) in the healthy cohort. Oxygen saturation in retinal venules in MS patients was higher in eyes with known optic neuritis (65.1% ± 4.1%; mean ± SD, n = 10) than in unaffected fellow eyes (62.3% ± 6.3%, p = 0.049).

Conclusions: The results suggest that retinal oxygen metabolism is affected in MS patients and optic neuritis. Non-invasive retinal oxygen imaging may be an objective biomarker in MS and optic neuritis and useful in the study of its pathophysiology. Further studies are needed to confirm and expand these findings.

The prechoroidal cleft (PC) is a hyporeflective space visualized on optical coherence tomography (OCT), typically located within the pigment epithelial detachments (PEDs) in neovascular age-related macular degeneration (nAMD). Although its pathogenesis is not yet fully understood, proposed mechanisms include fluid accumulation secondary to macular neovascularization (MNV), contractile forces from fibrovascular tissue and chronic structural remodelling of the outer retinal layers. This narrative review synthesizes the current evidence regarding the imaging features, pathophysiological mechanisms, clinical relevance and prognostic implications of the PC in nAMD. The presence of a PC has been variably associated with MNV activity, poor visual outcomes, increased treatment burden and a higher risk of complications, such as retinal pigment epithelium (RPE) tears and submacular haemorrhage (SMH). However, emerging data suggest that the cleft may regress following sustained anti-VEGF therapy, implying a potential role as a marker of therapeutic response and anatomical improvement. Thus, the PC may serve as a dynamic biomarker of disease activity in nAMD patients. Nevertheless, its precise role in disease progression remains unclear, highlighting the need for further longitudinal and histopathological studies.

Purpose: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia. Most cases are caused by variants in NYX, TRPM1, GRM6, GPR179 or LRIT3. This study aimed to identify the genetic defect in a subject with clinically diagnosed cCSNB lacking coding variants in known associated genes.

Methods: A male patient presented with an electroretinogram profile consistent with cCSNB in the absence of high myopia. Pathogenic variants were not detected using Sanger sequencing of the coding regions of all known CSNB-associated genes. Whole genome sequencing (WGS) and bioinformatic analysis using SpliceAI, Pangolin, REVEL, CADD v1.7, BayesDel and MetaRNN were performed to detect potential pathogenic variants. Functional impact of this variant has been analysed using LINSIGHT, ReMM and FunUV. A minigene assay was used to assess the splicing impact of the identified variant.

Results: WGS identified a novel c.-57G>A variant in the 5' untranslated region, within exon 1 of NYX coding for nyctalopin. In silico predictions suggested this variant to alter splicing, which was confirmed by a minigene assay showing abnormal expression of NYX. The defect was predicted to reduce nyctalopin production, potentially explaining the milder cCSNB phenotype.

Conclusions: To our knowledge, this is the first report describing a noncoding variant in NYX causing CSNB but lacking high myopia. These results highlight the clinical importance of screening noncoding regions of known IRD genes in genetically unsolved cases. Whether the development of high myopia in cCSNB depends on the type and location of NYX variants remains to be elucidated.