Acanthamoeba is a ubiquitous genus of amoebae that can trigger a severe and progressive ocular disease known as Acanthamoeba Keratitis (AK). Furthermore, current treatment protocols are based on the combination of different compounds that are not fully effective. Therefore, an urgent need to find new compounds to treat Acanthamoeba infections is clear. In the present study, we evaluated staurosporine as a potential treatment for Acanthamoeba keratitis using mouse cornea as an ex vivo model, and a comparative proteomic analysis was conducted to elucidate a mechanism of action. The obtained results indicate that staurosporine altered the conformation of actin and tubulin in treated trophozoites of A. castellanii. In addition, proteomic analysis of treated trophozoites revealed that this molecule induced overexpression and a downregulation of proteins related to key functions for Acanthamoeba infection pathways. Additionally, the ex vivo assay used validated this model for the study of the pathogenesis and therapies of AK. Finally, staurosporine eliminated the entire amoebic population and prevented the adhesion and infection of amoebae to the epithelium of treated mouse corneas.

• Klíčová slova
• Acanthamoeba, PCD, ex vivo, mouse cornea, proteomic analysis, staurosporine,
• MeSH
• Acanthamoeba castellanii * účinky léků   MeSH
• akantamébová keratitida * farmakoterapie   parazitologie   MeSH
• aktiny metabolismus   MeSH
• modely nemocí na zvířatech * MeSH
• myši MeSH
• proteomika * metody   MeSH
• rohovka * účinky léků   parazitologie   MeSH
• staurosporin * farmakologie   MeSH
• trofozoiti účinky léků   MeSH
• tubulin metabolismus   MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• aktiny MeSH
• staurosporin * MeSH
• tubulin MeSH

Primary Sjögren's syndrome is an autoimmune disorder that is characterized by lymphocytic infiltration of salivary and lacrimal glands. The extra-glandular manifestations might be arthritis, myalgia, glomerulonephritis, skin rashes, and neurologic involvement. One of the uncommon neurologic manifestations is neuromyelitis optica spectrum disorder (NMOSD). In the present case, an older woman is reported that was diagnosed with NMOSD secondary to keratoconjunctivitis sicca, which is rare in geriatric practice.

• Klíčová slova
• Aging, Neuromyelitis optica spectrum disorder, Primary Sjögren’s syndrome,
• MeSH
• lidé MeSH
• neuromyelitis optica * diagnóza   komplikace   etiologie   MeSH
• senioři MeSH
• Sjögrenův syndrom * komplikace   diagnóza   MeSH
• suchá keratokonjunktivitida etiologie   diagnóza   MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

AIM: Iridocorneal endothelial (ICE) syndrome is a rare disease characterized by abnormal proliferation and structural changes of the endothelium, obliteration of the iridocorneal angle, and anomalies of the iris. The consequence of these changes is secondary glaucoma and corneal decompensation. The etiology is unclear, and the syndrome more commonly affects middle-aged women. CASE REPORTS: In this article we present two different case studies of young patients diagnosed with ICE syndrome with complications. The first case report is about a young woman in whom surgical treatment of glaucoma and corneal edema was successful. On the other hand, the second report presents a complicated case of a 29-year-old patient whose treatment was not successful despite repeated interventions. CONCLUSION: This text highlights the complexity of ICE syndrome, the difficulty of its therapy and the importance of early diagnosis.

• Klíčová slova
• corneal diseases, iridocorneal endothelial syndrome, plasmapheresis, secondary glaucoma,
• MeSH
• dospělí MeSH
• glaukom komplikace   MeSH
• iridokorneální endoteliální syndrom * diagnóza   komplikace   MeSH
• lidé MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

PURPOSE: The aim of the study was to evaluate the clinical results of the implantation of the toric intraocular lens Acrysof IQ Toric SN6AT3_8 (Alcon Laboratories, Inc., Fort Worth, TX, USA), including an evaluation of its rotational stability. MATERIAL AND METHODS: 30 eyes of 16 patients (4 males, 12 females; mean age 68 years) with regular corneal astigmatism ranging from -1.5 to -4.0 Dcyl were included in this retrospective study. All the patients underwent uncomplicated cataract surgery with the implantation of a toric intraocular lens (TIOL) at the Department of Ophthalmology of the Faculty of Medicine and Dentistry of Palacký University in Olomouc and University Hospital Olomouc during the course of 2020. Follow-up examinations were performed 3-6 months after cataract surgery. We monitored the resulting uncorrected distance visual acuity (UDVA), postoperative refraction, rotational stability of the implanted lens and subjective patient satisfaction. RESULTS: mean preoperative corneal astigmatism was -2.41 ±0.67 Dcyl. UDVA improved from a mean value of 0.45 ±0.25 (expressed in decimal Snellen optotype values) to 0.91 ±0.16. The spherical equivalent value of 0.41 ±2.92 improved to -0.11 ±0.27 postoperatively. The mean deviation from the planned axis was 4.87 ±4.75. Subjective satisfaction was rated by patients on a scale of 1-5, with a mean score of 1.5. CONCLUSION: TIOL implantation is a safe and effective solution for patients with corneal astigmatism and cataract. Our results demonstrate improved UDVA, rotational stability of the TIOL and subjective patient satisfaction with the outcome of the surgery.

• Klíčová slova
• cataract surgery, astigmatism, toric intraocular lens, rotational stability,
• MeSH
• astigmatismus * chirurgie   MeSH
• fakoemulzifikace * metody   MeSH
• implantace nitrooční čočky MeSH
• katarakta * MeSH
• lidé MeSH
• nemoci rohovky * MeSH
• nitrooční čočky * MeSH
• refrakce oka MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of a non-coding CTG repeat element (termed CTG18.1) located within the ubiquitously expressed transcription factor encoding gene, TCF4. The non-coding nature of the repeat and the transcriptomic complexity of TCF4 have made it extremely challenging to experimentally decipher the molecular mechanisms underlying this disease. Here we comprehensively describe CTG18.1 expansion-driven molecular components of disease within primary patient-derived corneal endothelial cells (CECs), generated from a large cohort of individuals with CTG18.1-expanded (Exp+) and CTG 18.1-independent (Exp-) FECD. We employ long-read, short-read, and spatial transcriptomic techniques to interrogate expansion-specific transcriptomic biomarkers. Interrogation of long-read sequencing and alternative splicing analysis of short-read transcriptomic data together reveals the global extent of altered splicing occurring within Exp+ FECD, and unique transcripts associated with CTG18.1-expansions. Similarly, differential gene expression analysis highlights the total transcriptomic consequences of Exp+ FECD within CECs. Furthermore, differential exon usage, pathway enrichment and spatial transcriptomics reveal TCF4 isoform ratio skewing solely in Exp+ FECD with potential downstream functional consequences. Lastly, exome data from 134 Exp- FECD cases identified rare (minor allele frequency <0.005) and potentially deleterious (CADD>15) TCF4 variants in 7/134 FECD Exp- cases, suggesting that TCF4 variants independent of CTG18.1 may increase FECD risk. In summary, our study supports the hypothesis that at least two distinct pathogenic mechanisms, RNA toxicity and TCF4 isoform-specific dysregulation, both underpin the pathophysiology of FECD. We anticipate these data will inform and guide the development of translational interventions for this common triplet-repeat mediated disease.

• MeSH
• alternativní sestřih genetika   MeSH
• endoteliální buňky metabolismus   MeSH
• expanze trinukleotidových repetic * genetika   MeSH
• Fuchsova endoteliální dystrofie * genetika   MeSH
• lidé MeSH
• rohovkový endotel metabolismus   patologie   MeSH
• transkripční faktor 4 * genetika   metabolismus   MeSH
• transkriptom genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• TCF4 protein, human MeSH Prohlížeč
• transkripční faktor 4 * MeSH

PURPOSE: To evaluate the safety and efficacy of using corneal stromal lenticules (CSLs) obtained during refractive surgery Refractive Lenticule Extraction (ReLEx) with the Small Incision Lenticule Extraction (SMILE) procedure for the treatment of corneal ulcers. METHODS: This retrospective study included 12 eyes of 12 patients, 7 men and 5 women with varying degrees of corneal ulcer. The mean age was 64 ± 18 (range 34 to 95 years). The monitoring included corrected distance visual acuity (CDVA), slit-lamp biomicroscopy examination, a Seidel test, stability of the graft and anterior segment optical coherence tomography (AS-OCT) inspection. Patients were closely monitored for possible postoperative complications for at least 6 months. RESULTS: In 7/12 (58%) eyes, the corneal ulcer was successfully sealed with CSL and amniotic membrane (AM) without the need for any additional surgical intervention. In 3 eyes, penetrating keratoplasty (PK) was needed in addition to CSL transplantation and in 2 eyes the scleral patch was used to fully seal after CSL transplantation. During the follow-up period no signs of rejection or infection were detected in any patient. CONCLUSION: The use of CSLs from ReLEx SMILE may be considered as an alternative method for the treatment of corneal ulcers before a more extensive and definitive solution - PK - is used. Our preliminary findings suggest that properly performed CSL transplantation using cryopreserved lenticules is a safe and effective method to temporarily cover the corneal partial-thickness defect or even perforation.

• Klíčová slova
• CSL transplantation, ReLEx SMILE, amniotic membrane, corneal stromal lenticule, corneal ulcer,
• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• stroma rohovky chirurgie   MeSH
• transplantace rohovky * metody   MeSH
• vřed rohovky * chirurgie   MeSH
• vřed chirurgie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Pathogenic variants in the highly conserved OVOL2 promoter region cause posterior polymorphous corneal dystrophy (PPCD) 1 by inducing an ectopic expression of the endothelial OVOL2 mRNA. Here we produced an allelic series of Ovol2 promoter mutations in the mouse model including the heterozygous c.-307T>C variant (RefSeq NM_021220.4) causing PPCD1 in humans. Despite the high evolutionary conservation of the Ovol2 promoter, only some alterations of its sequence had phenotypic consequences in mice. Four independent sequence variants in the distal part of the Ovol2 promoter had no significant effect on endothelial Ovol2 mRNA level or caused any ocular phenotype. In contrast, the mutation c.-307T>C resulted in increased Ovol2 expression in the corneal endothelium. However, only a small fraction of adult mice c.-307T>C heterozygotes developed ocular phenotypes such as irido-corneal adhesions, and corneal opacity. Interestingly, phenotypic penetrance was increased at embryonic stages. Notably, c.-307T>C mutation is located next to the Ovol1/Ovol2 transcription factor binding site. Mice carrying an allele with a deletion encompassing the Ovol2 binding site c.-307_-320del showed significant Ovol2 gene upregulation in the cornea endothelium and exhibited phenotypes similar to the c.-307T>C mutation. In conclusion, although the mutations c.-307T>C and -307_-320del lead to a comparably strong increase in endothelial Ovol2 expression as seen in PPCD1 patients, endothelial dystrophy was not observed in the mouse model, implicating species-specific differences in endothelial cell biology. Nonetheless, the emergence of dominant ocular phenotypes associated with Ovol2 promoter variants in mice implies a potential role of this gene in eye development and disease.

• Klíčová slova
• Ovol2, PPCD1, cornea, corneal endothelium, pathogenic variant,
• MeSH
• dědičné dystrofie rohovky * genetika   MeSH
• dospělí MeSH
• fenotyp MeSH
• lidé MeSH
• messenger RNA MeSH
• modely nemocí na zvířatech MeSH
• myši MeSH
• rohovkový endotel MeSH
• transkripční faktory genetika   MeSH
• zvířata MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• messenger RNA MeSH
• Ovol2 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

AIMS: To demonstrate changes in distance and near fusional vergence measured with prism bars, while compensating for present heterophoria using current ametropia correction. In addition, to determine the differences in values of the AC/A ratio determined by the heterophoric (calculation) and gradient methods. MATERIAL AND METHODS: The basic sample includes 19 subjects with a mean age of 21.5 ±3.0 years (min. 18, max. 27). We used the Von Graefe technique for examination of distance and near phoria, and prism bars for examination of fusion vergences measured in prism diopters. We divided the basic cohort into six research sets according to the size of distance and near heterophoria. This was a cohort of patients with distance (D OR) and near orthophoria (N OR), a cohort of patients with distance (D EX) and near exophoria (N EX) and a set of patients with distance (D ES) and near esophoria (N ES). RESULTS: In the case of both groups with exophoria (distance, near) we found a statistically significant result only for negative fusion vergence (NFV). There was a statistically significant increase in NFV in the sample with distance and near exophoria (D EX, p = 0.01 and B EX, p = 0.02, respectively). In our study, we also demonstrated a statistically significant difference (p < 0.001) in the values of the AC/A ratio measured by the gradient and heterophoric methods. The values determined by the gradient method are lower (3.0 ±1.1 pD/D versus 5.8 ±0.9 pD/D) than by the heterophoric method. CONCLUSION: By comparing fusion vergence values in patients with exophoria and orthophoria, we demonstrated that in the presence of distance or near exophoria there is an increase in ipsilateral fusion vergence. In the case of an increase in ipsilateral fusion vergence, the finding was statistically significant both distance and near (p = 0.01 and p = 0.02, respectively). By contrast, we were unable to prove this fact in the group of patients with esophoria. In our study, we also demonstrated a statistically significant difference (p < 0.001) in the values of the AC/A ratio measured by the gradient and heterophoric methods. The values determined by the gradient method are lower (3.0 ±1.1 pD/D versus 5.8 ±0.9 pD/D) than by the heterophoric method.

• MeSH
• dospělí MeSH
• esotropie * diagnóza   MeSH
• exotropie * diagnóza   MeSH
• keratokonus * diagnóza   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• oční konvergence MeSH
• optická koherentní tomografie MeSH
• strabismus * MeSH
• vidění binokulární MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• Publikační typ
• časopisecké články MeSH

PURPOSE: To report the genetic etiology of Lisch epithelial corneal dystrophy (LECD). DESIGN: Multicenter cohort study. METHODS: A discovery cohort of 27 individuals with LECD from 17 families, including 7 affected members from the original LECD family, 6 patients from 2 new families and 14 simplex cases, was recruited. A cohort of 6 individuals carrying a pathogenic MCOLN1 (mucolipin 1) variant was reviewed for signs of LECD. Next-generation sequencing or targeted Sanger sequencing were used in all patients to identify pathogenic or likely pathogenic variants and penetrance of variants. RESULTS: Nine rare heterozygous MCOLN1 variants were identified in 23 of 27 affected individuals from 13 families. The truncating nature of 7 variants and functional testing of 1 missense variant indicated that they result in MCOLN1 haploinsufficiency. Importantly, in the homozygous and compound-heterozygous state, 4 of 9 LECD-associated variants cause the rare lysosomal storage disorder mucolipidosis IV (MLIV). Autosomal recessive MLIV is a systemic disease and comprises neurodegeneration as well as corneal opacity of infantile-onset with epithelial autofluorescent lysosomal inclusions. However, the 6 parents of 3 patients with MLIV confirmed to carry pathogenic MCOLN1 variants did not have the LECD phenotype, suggesting MCOLN1 haploinsufficiency may be associated with reduced penetrance and variable expressivity. CONCLUSIONS: MCOLN1 haploinsufficiency is the major cause of LECD. Based on the overlapping clinical features of corneal epithelial cells with autofluorescent inclusions reported in both LECD and MLIV, it is concluded that some carriers of MCOLN1 haploinsufficiency-causing variants present with LECD.

• MeSH
• dědičné dystrofie rohovky * diagnóza   genetika   MeSH
• kationtové kanály TRP * genetika   MeSH
• kohortové studie MeSH
• lidé MeSH
• mukolipidózy * diagnóza   genetika   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• Názvy látek
• kationtové kanály TRP * MeSH
• MCOLN1 protein, human MeSH Prohlížeč

AIM: To introduce the topic of pediatric keratoconus, highlighting the importance of routine corneal topography and tomography in children and adolescents from predisposed groups. To attempt to ensure the early detection of keratoconus and its subclinical form, enabling early treatment, which brings better expected postoperative results. Material and methods: Using the corneal tomograph Pentacam AXL we examined children and adolescents with astigmatism equal or greater than 2 diopters (in at least one eye) and patients with at least one risk factor such as eye rubbing in the case of allergic pathologies, positive family history of keratoconus or certain forms of retinal dystrophy. In total, we included 231 eyes (116 patients), of which 54 were girls and 62 were boys. RESULTS: The Belin-Ambrósio deviation index parameter was evaluated, in which we classified a total of 41 eyes as subclinical keratoconus and 12 eyes as clinical keratoconus. Next, the corneal maps were evaluated individually, in which we included a total of 15 eyes as subclinical keratoconus and 6 eyes as clinical keratoconus. In our group, compared to the control group, subclinical and clinical keratoconus occurred most often in the group of patients with astigmatism and in the group of so-called "eye rubbers". After individual evaluation, keratoconus occurred more frequently in boys than in girls in our cohort. CONCLUSION: Most patients with keratoconus are diagnosed when there is a deterioration of visual acuity and changes on the anterior surface of the cornea. Corneal topography and tomography allows us to monitor the initial changes on the posterior surface of the cornea, and helps us to detect the subclinical form of keratoconus and the possibility of its early treatment. Therefore, it is important to determine which groups are at risk and groups in which corneal topography and tomography should be performed routinely.

• Klíčová slova
• astigmatism, eye-rubbing, keratoconus, topography and tomography,
• MeSH
• astigmatismus * MeSH
• dítě MeSH
• keratokonus * diagnóza   MeSH
• lidé MeSH
• mladiství MeSH
• oftalmologie * MeSH
• pachymetrie rohovky MeSH
• rohovka patologie   MeSH
• rohovková topografie metody   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH