Sereikaitė, Liveta

Introduction RS1 gene mutations cause X-linked juvenile retinoschisis (XLRS), a hereditary retinal disorder with progressive vision loss and retinal layer splitting [1,2]. Clinical features vary from macular cysts to peripheral changes, and genotype-phenotype correlations [3,4]. Children with reduced vision or amblyopia unresponsive to correction should be assessed for other ocular causes. Diagnosis requires clinical evaluation and genetic confirmation, with long-term monitoring to guide management and prevent complications [1,3]. Case Presentation A 12-year-old boy with a prior diagnosis of amblyopia and mild intermittent divergent strabismus had suboptimal BCVA despite spectacle correction (BCVA right eye 0.4, left eye 0.3 (Snellen decimal chart)). OCT and fundus examination revealed bilateral macular and peripheral retinoschisis. RS1 gene sequencing (single-gene analysis) revealed hemizygous pathogenic variant NM_000330.4:c.638G>A; p.(Arg213Gln) and XLRS was confirmed. Continuous spectacle use and regular eye follow-up were advised. XLRS is phenotypically variable, sometimes affecting mainly the periphery or showing subtle pigmentary changes, requiring individualized follow-up [3,5]. Discussion This case shows that therapy-resistant amblyopia should prompt detailed structural evaluation. Bilateral macular pathology can be missed without OCT or thorough fundus evaluation. Visual acuity correlates more with outer retinal layer integrity - especially the photoreceptor layer and ellipsoid zone than cyst size [7]. RS1 dysfunction alters retinal architecture and photoreceptor development, with genetic modifiers influencing phenotype [8]. No cure exists, but gene therapy and retinal organoid advances may enable future XLRS treatments [9]. Conclusions In children, amblyopia unresponsive to optimal refractive correction should prompt evaluation for other causes, including hereditary retinal diseases like XLRS, which is heterogeneous, with visual function linked to outer retinal integrity [3,7]. Genetic diagnosis is important for clinicians and parents, and individualized monitoring with OCT, fundus evaluation, and genetic counseling is essential [1,2,5]. Advances in gene therapy and retinal organoid technology may offer future treatment options [8,9].

Introduction Penetrating ocular trauma in children can affect the cornea, iris, and lens, causing corneal laceration, lens displacement, and traumatic cataract, requiring prompt surgical intervention [1,2]. Surgical wound repair and lensectomy with partial vitrectomy followed by appropriate postoperative care, including possible secondary intraocular lens (IOL) implantation, can achieve favorable visual outcomes while monitoring for amblyopia, strabismus, macular edema, glaucoma and other complications [1–3]. Case Presentation A 10-year-old sustained a right-eye injury from a tile fragment, causing full-thickness corneal wound with iris prolapse, hyphema, and lens displacement. Corneal repair, lensectomy, and partial vitrectomy were performed, followed by topical and systemic therapy. After corneal sutures removal, a prescribed contact lens for aphakia was poorly tolerated (visual acuity 0.01; best-corrected visual acuity (BCVA) 0.7) and right-eye exotropia was noted. One month later, a retropupillary Artisan IOL was implanted. Later optical coherence tomography revealed postoperative cystoid macular edema which resolved with topical steroid and non-steroidal anti-inflammatory drugs. A few months later, BCVA improved from 0.1 to 0.6 in the right eye; the fellow eye remained 1.0. Discussion Management of pediatric penetrating eye injuries commonly includes lensectomy, partial vitrectomy [4]. When capsular support is absent, iris-claw IOL provide an effective option for visual recovery [5]. However, studies report frequent lensectomy complications such as visual axis opacification, strabismus, and the need for additional procedures, with final visual outcomes often influenced by macular status [4,6]. Therefore, long-term monitoring of inflammation, intraocular pressure, and macular condition is essential [7]. Conclusions This case shows that secondary retropupillary iris-claw IOL implantation can significantly improve vision after pediatric penetrating ocular trauma. Visual acuity increased from 0.1 during aphakia to 0.6 after secondary IOL implantation, while postoperative cystoid macular edema was successfully managed with topical therapy. Long-term follow-up is crucial to detect complications that may affect visual outcome.

Background: Leber’s hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and an inherited optic neuropathy. Recently, two different LHON inheritance types have been discovered: mitochondrially inherited LHON (mtLHON) and autosomal recessive LHON (arLHON). Our case report is the first diagnosed case of arLHON in a patient of Lithuanian descent and confirms the DnaJ Heat Shock Protein Family (Hsp40) Member C30 (DNAJC30) c.152A>G p.(Tyr51Cys) founder variant. Case Presentation: A 34-year-old Lithuanian man complained of headache and sudden, painless loss of central vision in his right eye. On examination, the visual acuity of the right and left eyes was 0.1 and 1.0, respectively. Visual-field examination revealed a central scotoma in the right eye, and visual evoked potentials (VEPs) showed prolonged latency in both eyes. Optical coherence tomography showed thickening of the retinal nerve fiber layer in the upper quadrant of the optic disk in the left eye. Magnetic resonance imaging of the head showed evidence of optic nerve inflammation in the right eye. Blood tests were within normal range and showed no signs of inflammation. Retrobulbar neuritis of the right eye was suspected, and the patient was treated with steroids, which did not improve visual acuity. He later developed visual loss in the left eye as well. A genetic origin of the optic neuropathy was suspected, and a complete mitochondrial DNA analysis was performed, but it did not reveal any pathologic mutations. Over time, the visual acuity of both eyes slowly deteriorated, and the retinal nerve fiber layer (RNFL) thinning of the optic disks progressed. A multidisciplinary team of specialists concluded that vasculitis or infectious disease was unlikely to be the cause of the vision loss, and a genetic cause for the disease was still suspected, although a first-stage genetic test did not yield the diagnosis. Thirty-three months after disease onset, whole-exome sequencing revealed a pathogenic variant in the DNAJC30 gene, leading to the diagnosis of arLHON. Treatment with Idebenone was started 35 months after the onset of the disease, resulting in no significant worsening of the patient’s condition. Conclusion: This case highlights the importance of considering arLHON as a possible diagnosis for patients with optic neuropathy, because the phenotype of arLHON appears to be identical to that of mtLHON and cannot be distinguished by clinicians.

Purpose: This study aims to evaluate TERC and TERT gene polymorphisms and their relationship to risk factors, laboratory findings, and imaging in endocrine ophthalmopathy (EO) patients. Methods: This cross-sectional study involved EO patients and healthy volunteers who were patients of the Eye Disease Clinic of the Lithuanian University of Health Sciences. A complete ophthalmological examination was performed on all participants. The results of imaging and laboratory tests were taken from the medical records. DNA was extracted from peripheral blood leukocytes, and real-time polymerase chain reaction (RT-PCR) was used to analyze the TERC rs35073794 and rs12696304, and TERT rs2736098 gene polymorphisms. Data analysis was performed using IBM SPSS Statistics 27 software. Results: According to the RT-PCR results, the TERC rs35073794 GG genotype polymorphism is significantly associated with EO (p=0.001). In addition, the TERC rs12696304 polymorphism CC genotype correlates with extraocular muscle changes observed in imaging studies (p=0.017). In contrast, the TERT rs2736098 polymorphism CC genotype is associated with increased anti-TSHR levels (p=0.047), and the CT genotype is associated with smoking (p=0.035). Conclusions: This study provides new evidence that the TERC rs35073794 polymorphism is related to EO, the TERC rs12696304 polymorphism correlates with extraocular muscle changes, and the TERT rs2736098 polymorphism is associated with increased anti-TSHR levels and smoking. These results suggest that TERC and TERT gene polymorphisms have the potential to be used as prognostic factors in clinical practice. However, larger multicenter studies still need to validate these results before they can be introduced into clinical practice.

In this study the authors propose a new solution for distinguish healthy cases and those with optic disc drusen (ODD) utilizing Residual Attention Network (RAN). This network architecture, which employs convolutional layers, integrates a diverse attention mechanism within its deep structure. In this study, an unique approach is adopted, involving the iterative division and subsequent recombination of a single image B-scan obtained using OCT-A. Overall, 116 images of ODD obtained using optical coherence tomography - angiography (OCT-A) have been analysed and compared to images of healthy optic discs. A sequence of trials was conducted, considering the random partitioning of data into training, validation, and test elements, with proportions of 60 %, 20 %, and 20 %, respectively. The minimum accuracy exceeded 86 %, while the maximum values were higher than 98 %. The accuracy for analyzing healthy cases and ones with ODD has gained very satisfactory results. Our study shows that RAN is a suitable tool for distinguishing between optic disc drusen and normal optic discs on the basis of OCT-A B-scans of the optic nerve head. Deep learning may be used as a possible solution to screen for patients with ODD.

Introduction (Case Reports Only) We present a case report of an 18-year-old male who was first diagnosed with ocular toxocariasis (OT) in 2010 and experienced two recurrences of the disease since 2019. Case Description (Case Reports Only) An 18-year-old male presented with complaints of decreased vision in his right eye. His medical history revealed that he had been diagnosed with OT 9 years ago, and at that time, a blood test had shown a positive result for serum anti-Toxocara IgG. After treatment, the patient's symptoms had improved, and a focal, raised whitish retinal lesion in the right eye had disappeared. However, in 2019, examination revealed a decrease in visual acuity (VA) (Snellen chart) to 0.3 in the right eye. Slit lamp examination revealed cells in the anterior chamber and vitreous. Fundus examination revealed a swollen optic disc and a whitish, focally raised lesion with a swollen inferotemporal arcade. A blood test revealed eosinophilia, negative anti-Toxocara IgG (tested 6 days after recurrence), and anti-Toxocara IgM was not determined. The diagnosis OT was made based on the patient's history and clinical presentation. The patient was treated with albendazole 400 mg twice daily and topical eye drops for 5 days. All of the above findings improved significantly, and best corrected visual acuity (BCVA) increased to 0.8 within 3 months. Two years later, the patient's vision in the right eye deteriorated after infection COVID -19. Clinical examination revealed a VA of 0.4, and fundus examination revealed an active focal lesion, and systemic treatment was not prescribed at this time. Improvement in the condition was observed, and within 2 months, the BCVA improved to 1.0. Summary (Case Reports Only) An 18-year-old patient had two recurrences of OT in two years, but his VA fully recovered. Conclusions Monitor patients closely after treatment as parasites can remain in the body for years and cause recurrences.

PGR tyrimas šiuo metu laikomas pagrindiniu COVID-19 susirgimo diagnostikos metodu. Visuomenėje savidiagnostikai naudojamas greitasis COVID-19 antigeno testas, o antikūnų tyrimas atliekamas norint įvertinti buvusį susirgimą arba vakcinaciją nuo COVID-19. Jei reikia, atliekama krūtinės ląstos kompiuterinė tomografija, įvertinamas neutrofilų-limfocitų santykis, klinika. Nors yra nemažai šio susirgimo diagnostikos metodų, tačiau kiekvienas iš jų turi savo privalumų ir trūkumų, todėl ieškoma inovatyvių sprendimų, kurie padėtų suvaldyti viruso plitimą. Tyrimo tikslas − išanalizuoti mokslinę literatūrą apie COVID-19 diagnostikos iššūkius. Metodika. Atlikta mokslinės literatūros anglų kalba apžvalga ir analizė. Straipsnių paieška vykdyta PubMed, UpToDate ir ClinicalKey duomenų bazėse. Atrinktos ir išanalizuotos 25 publikacijos. Rezultatai. Rasta nemažai COVID-19 diagnostikos metodų. PGR yra pagrindinis tyrimas, jo jautrumas labai priklauso nuo taikomo PGR tipo, protokolo, reagentų tiekėjo bei praėjusio laiko nuo simptomų pradžios. Pravartu žinoti kitas diagnostikos galimybes, kurias reikėtų derinti su PGR tyrimu. Nustatyti diagnozę gali padėti pasireiškiantys simptomai ar greitieji antigeno testai. Antikūnų nustatymo tyrimas nurodo persirgimą šiuo virusu. Uždegiminių biožymenų ir krūtinės ląstos kompiuterinės tomografijos vertinimas gali padėti diagnozuoti ir įvertinti paciento prognozę. Analizuojant uždegiminius biožymenis, galima vertinti neutrofilų-limfocitų santykį. Kiekvienas tyrimo metodas turi savų ypatybių, todėl diagnozuojant COVID-19 susirgimą, reikia tyrimus vertinti kompleksiškai. Išvados. PGR yra pagrindinis tyrimas. Jo jautrumas priklauso nuo taikomo PGR tipo, protokolo, reagentų tiekėjo bei laiko nuo simptomų pradžios. Yra ir daugiau diagnostikos galimybių, kurias reikėtų derinti su PGR tyrimu. Reikia vertinti simptomus ir greituosius antigeno testus, tinkamus populiacijai, antikūnų testus (tinkamus įvertinti persirgimą), krūtinės ląstos kompiuterinės tomografijos vaizdų analizę ar uždegiminių biožymenų pokyčius, tokius kaip neutrofilų-limfocitų santykis, kuris padeda įtarti susirgimą ir įvertinti paciento prognozę. Dabartiniu laikotarpiu vienas svarbiausių aspektų, padedančių suvaldyti pandemiją, yra kompleksinis požiūris į diagnostiką.

Introduction: Dirofilaria is a roundworm that parasitizes carnivores and other animals. The infection is transmitted by the bite of an infected mosquito. In a life cycle, humans are an aberrant host and in most cases, larvae do not develop into adult worms. Three species of worms are infective to humans: Dirofilaria immitis, Dirofilaria repens, and Dirofilaria tenuis. Infection with D. repens and D. tenuis usually results in subcutaneous nodules and likewise in the subconjunctiva of the eye. This presentation covers the fourth case of human infection reported in Lithuania since 2011. Case description: In April 2022, a 44-year-old male with traveling history to Italy (two months ago) and Indonesia, Thailand (two years ago) complained of ocular swelling and a foreign body sensation in the left eye for a few days. Upon examination, the uncorrected visual acuity of the patient was 1.0 Snellen chart in both eyes. On slit-lamp examination, a motile subconjunctival roundworm was found in his left eye. The parasite was removed in local anesthesia (proxymetacaine hydrochloride solution 0.5%). Based on morphology the pale, thin, and cylindrical worm was recognized as immature D. repens. The conjunctival injection was observed without any remarkable eye disorders. Discussion: Some studies suggest, that, a combination of 10% phenylephrine and 0.5% tropicamide drops (to reduce the worm motility) or subconjunctival injection of 2% lidocaine with epinephrine 1:100,000 can be considered as an alternative to proxymetacaine solution. After removal, anthelminthic therapy is usually not recommended for human dirofilariasis while surgical removal is the mainstay treatment. In case of patient complains on prolonged symptoms, severe itching, or vision impairment, microfilaremia should be considered and the blood smear examined microscopically. Currently, histological testing has been used as the gold standard for the diagnosis of human dirofilariasis. Other diagnostic methods including immunochromatographic antigen detection, ELISA, or Polymerase chain reaction are rarely used. Conclusions: This case report highlights the relevance of surgical removal and specific parasitological diagnostics. Systemic treatment is not required once the causative agent has been removed surgically. Nevertheless, such clinical cases are very rare, and multidisciplinary collaboration and patient follow-up are very important. The earlier reported prevalence of D. repens in shelter dogs (19%) and pet dogs (1.9%), as well as infections in non-traveling patients, suggests the possible autochthonous origin of the present human case in Lithuania.

Introduction Asthma is the most common chronic respiratory illness that affects more than 300 millionpeople worldwide [1,2]. Symptoms are non-specific, but the most common ones include wheezing, shortness of breath, chest tightness, and cough [3,4]. Difficulties with self- management are associated with reduced quality of life [5]. Aim To evaluate if asthma symptoms have association on quality of life among LUHS students. Methods The study was approved by the Kaunas regional biomedical research ethics committee (No. BEC-MF-335). There were 361 study participants aged between 19-41 who completed a self-administered anonymous questionnaire, which consisted of questions about gender, age, asthma symptoms and quality of life (5 questions: current wellbeing, restriction of daily activities, sleep disorders, fatigue during the day, emotional state). 24 (6.6%, p=<0,001, x2=271,38) of participants had a confirmed diagnosis of asthma. 337 (93,4%, p=<0,001, χ2 = 271,38) of participants had not confirmed diagnosis of asthma. Research objectives χ2 criteria was used. The results are statistically reliable when p<0.05. The statistical analysis was performed by using Microsoft Excel and statistical software SPSS 17.0. Results Among confirmed diagnosis of asthma, there was a statistical significance between the respondents who selected their well-being as bad(n=1, 4,2%),responders who picked their well-being as great(0%). Among those without allergic asthma, there were statistically significantly more respondents who rated their health as excellent(n=45, 13.4%) than as poor(1, 0,3%). […].

Introduction. We present a case report of a 49-year-old man diagnosed with Leber hereditary optic neuropathy(LHON) harbouring m.14484T>C mutation in the MT-ND6 gene, who experienced gradual vision loss. Case Description. A 49-year-old male patient experienced gradual painless vision loss in both eyes. From the medical history, we found that the onset of symptoms was about one year before the diagnosis was confirmed. During the first visit, best corrected visual acuity (Snellen chart, Landolt C optotype) in the right eye was 0.2, in the left eye 0.2. After 1month best corrected visual acuity in both eyes was reduced to 0.05. Both eyes showed central scotomas on full field visual testing. On slit-lamp examination, the findings of the anterior pole were within normal limits. Color vision and intraocular pressure were normal during both examinations. Dilated fundus examination showed optic nerve disk (OND) in pink color, the borders of OND were clear and well defined, elevated in the inferior parts, resembling drusen, narrow blood vessels. Optic coherence tomography (OCT) of retinal nerve fiber layer revealed temporal quadrants atrophic signs in both eyes. OCT of the macula was normal. Magnetic resonance brain imaging showed no signs of neuroinflammatory process or compressive lesions. As LHON was suspected, whole mitochondrial genome sequencing was initiated. Summary. LHON is a mitochondrial disorder characterized by gradual, painless, severe visual loss in one eye, followed weeks to years later by the same process in the other eye that usually affects young adults with a higher prevalence in men. Three primary mtDNA point mutations comprise over 90% of cases: 11778(69%), 3460(13%), and 14484(14%). Conclusion. Results of the performed mtDNA analysis confirmed the diagnosis of LHON. Patient was identified to carry homoplasmic pathogenic variant m.14484T>C in MT-ND6 gene. The patient’s offspring risk for inheriting[...]