Browsing by Author "Svetel, Marko (57223048135)"

Purpose: The purpose of this study was to evaluate intraocular pressure (IOP) levels in patients suffering from Wilsons disease. Methods: In observational, cross-sectional, non-interventional study, IOP was measured by applanation tonometry in 52 patients with Wilson's disease (WD), and compared to 52 healthy controls (HC). Results: Patients with Wilsons disease had significantly lower IOPs, compared to control group (CG) (13.20 ± 2.5 versus 14.98 ± 2.0, p <.000, t test). Conclusions: We found that IOP is significantly lower in patients with WD. © The Author(s) 2024.

Objectives: Wilson disease (WD) is an autosomal recessive disorder that leads to copper accumulation and deposition in different organs, frequently affecting visual pathways. Recent studies have detected morphological changes of the retina in patients with WD using optical coherence tomography (OCT). Measuring the thickness of the retinal nerve fibre layer (RNFL) with OCT provides an objective assessment of integrity and morphological abnormalities of the retina. The aim of this study was to evaluate the relationship between OCT parameters and form of the disease, therapy and symptoms duration, as well as severity of neurological impairment. Methods: The study comprised of 52 patients with WD and 52 healthy controls (HC). All the patients were on a regular and stable chelation therapy and/or zinc salts. Patients were divided into two groups, with neurological (NWD) or hepatic form of the disease (HWD). OCT was performed to assess the RNFL thickness. Results: The WD patients had significantly lower intraocular pressure in both eyes and lower RNFL thickness than the HC. There were no differences between NWD and HWD in any of the ophthalmologically tested parameters. No significant correlations were found between clinical features and retinal thickness parameters. Stratification of the cohort according to the disease duration showed that disease duration did not influence the RNFL thickness. Conclusion: We found that involvement of the retina represented a subclinical finding in neurologically intact patients in the HWD group. Nevertheless, the value of OCT as a biomarker for the assessment of the clinical course and progression of WD still remains uncertain. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Objectives: Wilson disease (WD) is an autosomal recessive disorder that leads to copper accumulation and deposition in different organs, frequently affecting visual pathways. Recent studies have detected morphological changes of the retina in patients with WD using optical coherence tomography (OCT). Measuring the thickness of the retinal nerve fibre layer (RNFL) with OCT provides an objective assessment of integrity and morphological abnormalities of the retina. The aim of this study was to evaluate the relationship between OCT parameters and form of the disease, therapy and symptoms duration, as well as severity of neurological impairment. Methods: The study comprised of 52 patients with WD and 52 healthy controls (HC). All the patients were on a regular and stable chelation therapy and/or zinc salts. Patients were divided into two groups, with neurological (NWD) or hepatic form of the disease (HWD). OCT was performed to assess the RNFL thickness. Results: The WD patients had significantly lower intraocular pressure in both eyes and lower RNFL thickness than the HC. There were no differences between NWD and HWD in any of the ophthalmologically tested parameters. No significant correlations were found between clinical features and retinal thickness parameters. Stratification of the cohort according to the disease duration showed that disease duration did not influence the RNFL thickness. Conclusion: We found that involvement of the retina represented a subclinical finding in neurologically intact patients in the HWD group. Nevertheless, the value of OCT as a biomarker for the assessment of the clinical course and progression of WD still remains uncertain. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Background/Objectives: Certain aspects of retinal thickness assessed by optical coherence tomography (OCT) in patients with Parkinson’s disease (PD) require additional clarification. It is supposed that attributing reduced retinal thickness in PD to dopaminergic loss may not be acceptable as it also happens in diseases where dopaminergic loss does not occur. The objective of our study is to compare the ganglion cell/inner plexiform layer (GCIPL), peripapillary retinal nerve fiber layer (pRNFL), and macular thickness of PD and dopa responsive dystonia (DRD) patients with healthy controls (HC), to investigate whether DRD patients, as a distinctive model of genetically induced dopamine deficiency, have reduced retinal thickness in comparison with PD, and to analyze correlation between retinal thickness and various PD clinical parameters. Methods: We analyzed 86 patients with PD, 10 patients with DRD, and 96 age- and sex-matched HC. Results: GCIPL, pRNFL, and central macula thickness (CMT) are statistically significantly thinner in PD patients compared to HC (p < 0.001, all). GCIPL and CMT are also statistically significantly thinner in DRD patients compared to HC (p = 0.012, p = 0.001, respectively). GCIPL thickness correlates positively with the daily dose of levodopa (r = 0.244, p < 0.01). The thickness of GCIPL and pRNFL correlate negatively with current age (r = −0.219; p < 0.01 and r = −0.358; p < 0.05, respectively). All retinal parameters are statistically significantly thinner in females than in males (p < 0.05). Conclusions: Patients with PD and DRD did not differ in GCIPL and pRNFL thickness when compared to one another. These results, supported by positive correlation of levodopa dose and GCIPL thickness in PD patients, emphasize the importance of dopamine in maintaining retinal thickness. © 2025 by the authors.

Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism caused by mutations in the ATP7B gene, which is located on chromosome 13q14.3. The global genetic prevalence of WD at birth is approximately 13.9–15.4 per 100,000 population. Although WD is a rare condition associated with treatment efficacy, mortality rates in patients with WD (5–6.1%) are higher than healthy controls. Prevalent features of WD include hepatic, neurologic, and psychiatric syndromes, even though various signs and symptoms of the disease have been depicted to this point. If diagnosed and treated at an early stage, WD patients would likely improve and be often largely asymptomatic for the rest of their lives. Prompt diagnosis and lifelong treatment substantially affect outcome. We aimed to summarize current knowledge about WD epidemiology, genetics, clinical manifestations, diagnostic workup, and current WD management. © 2024, Serbia Medical Society. All rights reserved.