OBJECTIVE: To report a case of mitochondrial retinopathy, highlighting its clinical and imaging findings, the importance of genetic confirmation, and the possible implications of heteroplasmy in this disease. MATERIAL AND METHODS: Case report of a mitochondrial retinopathy secondary to m.3243A>G mutation in the MT-TL1 gene. RESULTS: A 32-year-old woman presented with bilateral vision loss, photophobia, and sensorineural hearing loss for more than 3 years. Best corrected visual acuity (BCVA) was 20/60 in the right eye (OD) and 20/25 in the left eye (OS). Fundus examination revealed multiple macular subretinal yellow-white deposits and central chorioretinal atrophy, without edema, hemorrhage, or subretinal fluid in the RE, and juxtafoveal atrophy with retinal pigment epithelium (RPE) metaplasia in the OS. Multimodal imaging raised suspicion of retinal dystrophy, and genetic testing confirmed a mitochondrial retinopathy secondary to the m.3243A>G mutation in the MT-TL1 gene. CONCLUSIONS: Bilateral and symmetric RPE atrophic changes in young individuals, especially when associated with systemic symptoms, should prompt a comprehensive evaluation, including multimodal imaging and genetic testing. Identifying causative mutations and understanding the dynamics of mitochondrial DNA in the pathogenesis of these diseases is crucial for improving diagnosis and suggesting potential therapeutic strategies, including gene therapy.
- Klíčová slova
- Heteroplasmy, MT-TL1 gene, m.3243A>G mutation, mitochondrial disease,
- MeSH
- dospělí MeSH
- heteroplazmie genetika MeSH
- lidé MeSH
- mitochondriální DNA genetika MeSH
- mitochondriální nemoci genetika diagnóza komplikace MeSH
- mutace * MeSH
- nemoci retiny genetika diagnostické zobrazování diagnóza MeSH
- RNA transferová Leu * genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- mitochondriální DNA MeSH
- MT-TL1 tRNA, human MeSH Prohlížeč
- RNA transferová Leu * MeSH
AIM: To evaluate the safety and efficacy outcomes of PRESERFLO™ MicroShunt implantation in patients with primary open-angle glaucoma. MATERIAL AND METHODS: Retrospective data analysis of 19 eyes of 12 patients, comprising 5 females and 7 males. The patients underwent surgery between August 2020 and February 2022. The follow-up period was 24 months after surgery. During the follow-up period, intraocular pressure (IOP), the need to apply topical antiglaucoma medication and its spectrum, visual field status, optic nerve target findings and postoperative complications were recorded. The indication for PRESERFLO™ MicroShunt implantation was primary open angle glaucoma (POAG), poorly controlled with maximum tolerated medical therapy. RESULTS: Average IOP was reduced from 19.05 ±5.58 mmHg preoperatively to 11.47 ±2.48 mmHg at 3 months postoperatively, 12.26 ±2.48 mmHg at 6 months postoperatively, 14.0 ±2.43 mmHg at 12 months postoperatively, 11.78 ±2.37 mmHg at 18 months postoperatively, and 12.73 ±2.51 mmHg at 24 months postoperatively (p.
- Klíčová slova
- Preserflo MicroShunt, intraocular pressure, minimally invasive glaucoma surgery, primary open-angle glaucoma,
- MeSH
- drenážní implantáty glaukomové MeSH
- glaukom s otevřeným úhlem * chirurgie patofyziologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nitrooční tlak * MeSH
- retrospektivní studie MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
AIM: To report the results of treatment of patients with central serous chorioretinopathy treated with a Navilas laser. MATERIAL AND METHODS: We retrospectively evaluated the results of the treatment of 39 eyes of 37 patients with acute form of central serous chorioretinopathy, who did not respond to conventional treatment. In these patients we performed focal laser treatment at the point of leakage (hotspot) using a Navilas guided laser. RESULTS: 3 patients did not report for the check-up, of the remaining 36 eyes, complete liquid absorption was achieved in 32. Retreatment was necessary in 2 patients, choroidal neovascularization developed in one patient, and in one patient fluid absorption was not achieved even after retreatment. CONCLUSION: Focal laser treatment of hotspots in patients with central serous chorioretinopathy is still a very effective treatment method. Juxtafoveolar lesions can also be treated with a high degree of safety using a Navilas navigation laser.
- Klíčová slova
- Navilas, central serous chorioretinopathy, hotspot, pachychoroidea,
- MeSH
- centrální serózní chorioretinopatie * chirurgie diagnóza MeSH
- dospělí MeSH
- laserová koagulace * metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- retrospektivní studie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
AIMS: To analyze determinants affecting the selection of trifocal intraocular lenses (IOLs) and to evaluate patient satisfaction and adaptation patterns post-implantation in a Turkish cohort. MATERIAL AND METHODS: A cross-sectional study was conducted using a 17-item questionnaire administered to 96 patients who underwent phacoemulsification with PanOptix trifocal IOL implantation. Demographics, IOL selection factors, surgeon trust, visual adaptation, and satisfaction metrics were analyzed across various patient subgroups. RESULTS: The cohort (mean age 60.62 ±11.94 years; 58.3% male) demonstrated 96.9% overall satisfaction post-implantation. Significant findings included higher satisfaction rates among patients under 65 years (98.3% vs 94.7%, p = 0.042), among tertiary-educated patients (98% vs 75%, p = 0.03), and 82.3% complete spectacle independence. Visual phenomena were reported at contemporary rates (glare: 18.8%, halos: 22.9%). Ninety-one percent of patients achieved visual adaptation within three months. Preoperative counseling participation (86.7% vs 71.4%, p = 0.035) and consistent follow-up attendance (88.9% vs 73.3%, p = 0.028) emerged as significant predictors of satisfaction. CONCLUSION: Patient satisfaction with trifocal IOLs correlates significantly with age, educational background, and engagement in the treatment process. While overall satisfaction rates are high, outcomes appear influenced by demographic factors and healthcare engagement patterns. These findings emphasize the importance of comprehensive preoperative assessment, patient education, and tailored follow-up protocols in optimizing trifocal IOL outcomes across diverse population segments.
- Klíčová slova
- Cataract surgery, healthcare disparities, patient satisfaction, patient selection, spectacle independence, trifocal intraocular lenses, visual adaptation,
- MeSH
- dospělí MeSH
- fakoemulzifikace MeSH
- implantace nitrooční čočky * MeSH
- lidé středního věku MeSH
- lidé MeSH
- multifokální intraokulární čočky MeSH
- nitrooční čočky MeSH
- průřezové studie MeSH
- průzkumy a dotazníky MeSH
- senioři MeSH
- spokojenost pacientů * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
AIM: A systematic review of surgical procedures on eyelids and the conjunctival sac in the case of instability of an ocular prosthesis from the author's own experience. MATERIAL AND METHODS: In a prospective follow-up conducted from March 2022 to July 2024, the study comprised 51 patients with an unstable prosthesis who were referred by a prosthetist. The study examined the demographic data, cause of enucleation of the eyeball, the time interval between the onset of prosthesis instability and the surgical procedure of enucleation, and the surgical methods of correction to provide functional and aesthetic improvement. RESULTS: The 49 patients included 13 women with a mean age of 61.4 years (39-78) and 36 men with a mean age of 56.3 years (22-82). The most common causes of enucleation were trauma and malignant melanoma. The time interval from surgery/enucleation was 24.4 years for trauma etiology. After enucleation for malignant melanoma, the time interval was 4.2 years. In the 49 patients, 61 surgical procedures were performed to improve stability of the prosthesis. Lateral tarsorrhaphy was performed in 10 cases, 4 of which were combined with an orbital periosteal sling. Horizontal shortening of the lower eyelid was performed in 24 cases, 18 times separately and 6 times in combination with another procedure on the lower eyelid. Upper eyelid droop surgery was performed 8 times, including 5 times separately. Surgery for increasing the volume of the conjunctival sac with amniotic membrane transplantation was performed in 17 cases, 7x separately and 9x in combination with procedures on the lower eyelid . 44 patients underwent 1 surgical procedure, 4 patients underwent 2 procedures, and 3 patients underwent 3 procedures. Three patients also underwent hyaluronic acid injection to supplement the volume of the conjunctival sac. Cosmetically, the result and stability of the ocular prosthesis was achieved in 47 patients out of 49, 2 patients did not attend further procedures. CONCLUSION: Conjunctival sac changes with instability of the ocular prosthesis have a significant functional and psychological consequences. The causes of instability are varied, which influences the choice of surgical procedures. The surgical procedures presented in this paper may be effective separately, or a combination of them may be required.
- Klíčová slova
- amniotic membrane transplantation, conjunctival sac contracture, horizontal shortening of the lower eyelid, upper eyelid ptosis surgery,
- MeSH
- anoftalmie chirurgie MeSH
- dospělí MeSH
- enukleace oka MeSH
- konjunktiva chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- oční protézy * MeSH
- oční víčka chirurgie MeSH
- prospektivní studie MeSH
- selhání protézy MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- zákroky plastické chirurgie metody MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- systematický přehled MeSH
AIMS: To retrospectively evaluate the anatomical and functional success of surgical treatment for rhegmatogenous retinal detachment (RRD) in pediatric patients aged 18 years and younger. MATERIAL AND METHODS: The study includes 14 eyes of 14 patients, 9 (64%) of whom were males, with an average age of 12 years. All patients underwent surgery for rhegmatogenous retinal detachment (RRD) performed by a single surgeon at the Department of Ophthalmology, University Hospital Brno, and Masaryk University, from July 1, 2019, to June 30, 2024. The surgical techniques used included cryosurgery and 25G+ pars plana vitrectomy (PPV). In 3 patients a 25G+ PPV was combined with pre-equatorial scleral buckling. A history of blunt ocular trauma was permissible. The cause of RRD was retinal tear(s), regardless of their number or location. The transparency of the anterior segment enabled reliable visualization of the posterior segment. Preoperative proliferative vitreoretinopathy (PVR) grades A-D2 were acceptable. Patients with a history of penetrating ocular trauma were excluded. Anatomical success was defined as complete retinal reattachment. Each patient's final visual acuity (VA) was assessed using a Snellen chart. Numerical outcomes were expressed as arithmetic means and percentages. Since no comparative analysis was conducted between different groups, statistical tests were not required. RESULTS: In 13 patients (93%), complete retinal reattachment was achieved. In 1 patient (7%), the retina became detached again after silicone oil removal, with rapid progression of PVR, leading to anatomical treatment failure due to inoperability. A total of 11 patients (78%) achieved visual acuity (VA) of ≥ 4/40. CONCLUSION: We consider cryosurgical techniques utilizing episclerally fixed encircling bands and buckles, 25G+ PPV, and potentially a combination thereof as appropriate methods for managing RRD in children.
- Klíčová slova
- Visual acuity, rhegmatogenous retinal detachment,
- MeSH
- bukláž skléry * MeSH
- dítě MeSH
- kryochirurgie MeSH
- lidé MeSH
- mladiství MeSH
- odchlípení sítnice * chirurgie diagnóza MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- vitrektomie * MeSH
- zraková ostrost * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
A 70-year-old woman was examined with a 10-day history of photopsia and floaters in her left eye. Her best-corrected visual acuity was 20/25 in both eyes, with a normal intraocular pressure and some nuclear sclerosis. Spectral-domain optical coherence tomography revealed a separated posterior vitreous, with a rolled internal limiting membrane flap and inner retinal dimples in the left eye. Optical coherence tomography angiography demonstrated reduced vessel density in both the superficial and deep capillary plexuses of the left fundus. Sixteen months earlier, she had received a single intravitreal Dexamethasone implant injection, due to inferotemporal branch retinal vein occlusion-related macular edema. A diagnosis of internal limiting membrane tear following an uneventful posterior vitreous detachment was reached and no treatment was recommended.
- Klíčová slova
- Dexamethasone implant, inner retinal dimples, internal limiting membrane tear, intravitreal injection, macular edema, optical coherence tomography, posterior vitreous detachment, retinal vein occlusion,
- MeSH
- dexamethason * aplikace a dávkování MeSH
- glukokortikoidy aplikace a dávkování MeSH
- implantované léky * MeSH
- lidé MeSH
- makulární edém * farmakoterapie diagnostické zobrazování etiologie MeSH
- okluze retinální žíly * komplikace farmakoterapie diagnóza diagnostické zobrazování MeSH
- optická koherentní tomografie MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- dexamethason * MeSH
- glukokortikoidy MeSH
- implantované léky * MeSH
Unmanipulated donor lymphocyte infusions (DLI) are crucial for enhancing the graft versus tumor (GVT) effect in post-transplant settings. Practices regarding DLI use vary widely among centers, encompassing differences in indications, prerequisites, and application methods. To explore current DLI policies, we developed a comprehensive survey that garnered responses from 165 EBMT centers across 43 countries. Notably, 97% of respondents reported using DLI in their practices. Indications for DLI included preemptive use for minimal residual disease (MRD) positivity in 86.9% of centers and mixed chimerism in 73.1%; therapeutic use for hematological relapse in 73.1%; and prophylactic use for high-risk disease in 43.8%. Active graft-versus-host disease (GVHD) and active infections were deemed absolute contraindications by 85.6% and 57.5% of centers, respectively. 35% of centers did not consider a prior history of acute (a)GVHD as an exclusion criterion. The majority (71.9%) requested immunosuppression withdrawal before DLI. Most centers (71.3%) collected DLI post-transplant, with 78.1% utilizing unstimulated apheresis. The cell doses applied at the first DLI varied significantly, depending on indication, timing, and donor type. This survey provides the largest overview of current DLI practices, highlighting the need for high-quality data to assess the risks and benefits of different approaches.
- Publikační typ
- časopisecké články MeSH
IMPORTANCE: High-resolution microultrasonography-guided biopsy is an alternative to MRI fusion-guided biopsy for prostate cancer diagnosis. OBJECTIVE: To compare microultrasonography-guided and MRI fusion-guided biopsy. DESIGN, SETTING, AND PARTICIPANTS: A multicenter, international, open-label, randomized, noninferiority trial of biopsy-naive men from 20 centers (8 countries) with clinical suspicion of prostate cancer (elevated prostate-specific antigen [PSA] and/or abnormal digital rectal examination findings) from December 2021 to September 2024. INTERVENTIONS: Participants were assigned to receive either microultrasonography-guided biopsy (n = 121), microultrasonography/MRI fusion-guided biopsy (microultrasonography/MRI; n = 226, in which microultrasonography biopsies were performed prior to unblinding the MRI), or MRI/conventional US fusion-guided biopsy (MRI/conventional ultrasonography; n = 331). All participants received synchronous systematic biopsy. MAIN OUTCOMES AND MEASURES: The primary outcome was the difference in detection of Gleason Grade Group 2 or higher cancers using microultrasonography plus systematic biopsy vs MRI/conventional ultrasonography plus systematic biopsy. The secondary outcome was the difference in detection of Gleason Grade Group 2 or higher cancers found using microultrasonography/MRI plus systematic biopsy vs MRI/conventional ultrasonography plus systematic biopsy. The noninferiority margin was set at 10%. RESULTS: A total of 802 men underwent randomization and 678 underwent biopsy. Median (IQR) age was 65 (59-70) years and prostate-specific antigen level was 6.9 (5.2-9.8) ng/mL; 83% self-identified as White. Gleason Grade Group 2 or higher cancer was detected in 57 participants (47.1%) in the microultrasonography group, in 141 (42.6%) in the MRI/conventional ultrasonography group, and in 106 (46.9%) in the microultrasonography/MRI group. Microultrasonography-guided biopsy was noninferior to MRI fusion-guided biopsy (difference, 3.52% [95% CI, -3.95% to 10.92%]; noninferiority P < .001). Combined biopsy with microultrasonography/MRI was also noninferior to MRI/conventional ultrasonography software-assisted MRI fusion biopsy using conventional ultrasonography devices (difference, 4.29% [95% CI, -4.06% to 12.63%]; noninferiority P < .001). The rate of Gleason Grade Group 2 or higher cancer diagnosed by targeted biopsy only was 38.0% in the microultrasonography group, 34.1% in the MRI/conventional ultrasonography group, and 40.3% in the microultrasonography/MRI group; these differences were not significant. CONCLUSIONS AND RELEVANCE: The use of microultrasonography-guided biopsy was noninferior to MRI/conventional ultrasonography fusion-guided biopsy for the detection of Gleason Grade Group 2 or higher prostate cancer in biopsy-naive men. Microultrasonography may provide an alternative to MRI for image-guided prostate biopsy. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05220501.
- Publikační typ
- časopisecké články MeSH
Indole-3-acetic acid (IAA), the most common form of auxin, is involved in a great range of plant physiological processes. IAA is synthesized from the amino acid tryptophan and can be transported and inactivated in a myriad of ways. Despite intense research efforts, there are still dark corners in our comprehension of IAA metabolism and its interplays with other pathways. Genetic screens are a powerful tool for unbiasedly looking for new players in a given biological process. However, pleiotropism of auxin-related phenotypes and indirect effects make it necessary to incorporate additional screening steps to specifically find mutants affected in IAA homeostasis. We previously developed and validated a high-throughput methodology to simultaneously quantify IAA, key precursors, and inactive forms from as little as 10 mg of fresh tissue. We have carried out a genetic screening to identify mutants involved in IAA metabolism. Auxin reporters DR5pro:VENUS and 35Spro:DII-VENUS were EMS-mutagenized and subjected to a parallel morphological and reporter-signal pre-screen. We then obtained the auxin metabolite profile of 325 M3 selected lines and used multivariate data analysis to identify potential IAA-metabolism mutants. To test the screening design, we identified the causal mutations in three of the candidate lines by mapping-by-sequencing: dii365.3, dii571.1 and dr693. These carry new alleles of CYP83A1, MIAO, and SUPERROOT2, respectively, all of which have been previously involved in auxin homeostasis. Our results support the suitability of this approach to find new genes involved in IAA metabolism.
