Piškinienė, Raimonda

The study aimed to assess the potential association between CYP4F2 rs1558139 gene polymorphism, serum CYP4F2 levels, and the development of age-related macular degeneration (AMD).

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.

Introduction Dermatochalasis, an excess of the eyelid skin, is a common age-related condition that causes aesthetic and health problems. Excess skin narrows the eyelid opening, thereby limits peripheral vision, complicates to lift the upper eyelid, causes discomfort around the eyes. Higher eyelid load is aggravating the occipital muscle, which can lead to tension-type headaches. [1,3] The goal of blepharoplasty is to reduce the excess of the eyelid skin, so this surgery corrects all mentioned problems. Although the majority of patients have a better improvement in their acuity after blepharoplasty, it is important to determine whether the patient is satisfied with the procedure, i.e. to assess how his quality of life has changed. Aim To evaluate the impact of upper eyelid blepharoplasty to quality of life. Methods The research was carried out with permission from the Centre for Bioethics of LUHS (No.BEC-MF-253). 56 anonymous patients who came for planned blepharoplasty in LUHS were requested to complete an original survey preoperatively and at 1 month postoperatively. The collected data included the profession of respondents, their feelings about the appearance of eyes, limiting of social, professional life, driving, and their expectations of surgery. Statistical analysis was performed using IBM SPSS Statistics 27.0. The McNemar test and Chi-square were used. One-Sample Binomial Test was chosen to assess the outcome probabilities. P level <0.05 was considered to be significant. Results The study involved 56 patients: 52 women (92.86%) and 4 men (7.14%). Preoperatively 100% of patients stated that they had tired eye appearance. After blepharoplasty surgery eye appearance did not change for 16.1% and 83.9% of respondents did not look tired anymore (p <0.001). From 48 driving patients, 95.83% of patients because of the eyelid condition had more difficulty to detect lateral objects while driving. Postoperative... [...].

Background: Trauma of the orbital area is common, but bullet as an orbital foreign body is really rare case.This case report with 10-years follow-up demonstrates an unexpected foreign body (bullet) in the orbital area without any intervention and complications. Case Presentation: A healthy 12-years-old boy presented to the Hospital for the evaluation of orthodontic treatment necessity. He has no complaints except teeth crowding.Oral examination showed the patient healthy. However, panoramic X-ray surprised because of contrasting element, CT scan was done in order to reveal the origin of foreign bodies.The objects looked like bullets and then the real story became true. 6 months ago children were playing and found air gun with bullets. One bullet was inserted and they put in another one. The gun shoot and bullets went through nose soft tissues and left in the orbital area. The lesion in the face was not big and it wasn't detected. Results: Ophthalmological exam showed no injury signs extraoculary, normal visual acuity in both eyes.There were no inflammation signs, ocular motility was normal, fundus examination of the left eye showed dust like retinal pigment dispersion.. The patient was also consulted by radiologist, maxilo-face surgeon, neurosurgeon and it was decided to leave foreign body for observation without any interventions. Recall appointments for ophthalmological exam were scheduled once a year until the patient reaches the age of eighteen or when clinical symptoms will occur. No new clinical signs were observed and no complaints were mentioned. Conclusions: 1. CT is the best mode to evaluate localization, size, dynamics. 2. Priority should be given to the most logical treatment strategy. 3. Decision depends on such factors as foreign body position, material, size and clinical effects. 4.Posteriorly located foreign bodies without any clinical features should be left where they are in oder to avoid seri[...].

Tyrimo tikslas – išanalizuoti ligonių, operuotų LSMU Akių ligų klinikoje 2002–2014 m., akiduobės endoprotezavimo komplikacijas ir palyginti jas su literatūros duomenimis. Akies obuolį šalinti reikia labai rūpestingai, kad išvengtume bereikalingos papildomos traumos, infekcijos, deformacijų ir sukurtume optimalų junginės maišą. Tačiau, nepaisant palankiausių aplinkybių ir kvalifikuotų chirurgų, komplikacijų vis dėlto pasitaiko. Dažniausios literatūroje nurodomos akies obuolio pa - šalinimo su akiduobės endoimplantacija komplikacijos yra šios: junginės išplonėjimas, junginės cistos, sve - timkūnio reakcija, sekrecija, simblefarona, skliautų nepakankamumas, ptozė, nuolatinis skausmas, implanto dislokacija, migracija, prasigraužimas, pirminė ar antrinė infekcija, implanto išstūmimas. Tyrėme 128 ligonius, operuotus LSMU Akių ligų klinikoje 1999–2010 m. Nustatėme, kad dažniausios LSMU Akių klinikoje operuotiems ligoniams pasitaikiusios akiduobės endoimplantacijos komplikacijos – junginės erozija (5 pacientai – 2,9 %), cistos (9 pacientai – 7 %) ir implanto išstūmimas (5 pacientai – 2,9 %). Komplikacijų dažnis ir pobūdis panašūs į literatūroje pateiktus duomenis.

Blefarospazmas yra lėtinis, abipusis, forsuotas, nevalingas vokų užsimerkimas. Tai įvairiai progresuojanti neurologinė būklė. Su ja susijusi vadinamoji vokų apraksija, būklė, kai žmogus, turintis normalius vokus, negali jų atmerkti. Botulino toksino, raumenis paralyžiuojančio agento, atradimas leido daug pasiekti, gydant blefarospazmą, tačiau yra gana nemažai atvejų, kai minėtas preparatas neefektyvus ar mažai efektyvus. To priežastis – jau minėta vokų apraksija, kurią gydyti rekomenduojama chirurgiškai. Straipsnyje pateikiamas sėkmingo chirurginio blefarospazmo gydymo atvejis.

Introduction: all lid malpositions can be congenital or acquired. Accoerding to etiology of malposition - different types of surgical can be applied. Method: etiology, methods and results of surgery of lower lid ectropion, entropion, retraction reviewed in the paper. Conclusion: optimal results depends on precise diagnosis, a customized, creative, problem direct approach to decision making.

Gali atrodyti keista, tačiau daugelio procedūrų, kurios atrodo naujos, šaknys – tolimoje praeityje. Akiduobės riebalų išvaržų rezekcijos, viršutinio voko raukšlės suformavimo, fotografijos kosmetinėje chirurgijoje svarbos istorija taip pat ilga. Ji pasakoja apie modernios kosmetinės vokų ir veido chirurgijos vystymąsi bei pasiekimus ir patvirtina, kad dabartinės chirurgijos metodikos – tai viso labo modifikacijos tų, kurios atsirado seniai.