Pupillary Light Reflex Reveals Melanopsin System Alteration in the Background of Myopia-26, the Female Limited Form of Early-Onset High Myopia.

Purpose: The purpose of this study was to evaluate pupillary light reflex (PLR) to chromatic flashes in patients with early-onset high-myopia (eoHM) without (myopic controls = M-CTRL) and with (female-limited myopia-26 = MYP-26) genetic mutations in the ARR3 gene encoding the cone arrestin. Methods: Participants were 26 female subjects divided into 3 groups: emmetropic controls (E-CTRL, N = 12, mean age = 28.6 ± 7.8 years) and 2 myopic (M-CTRL, N = 7, mean age = 25.7 ± 11.5 years and MYP-26, N = 7, mean age = 28.3 ± 15.4 years) groups. In addition, one hemizygous carrier and one control male subject were examined. Direct PLRs were recorded after 10-minute dark adaptation. Stimuli were 1-second red (peak wavelength = 621 nm) and blue (peak wavelength = 470 nm) flashes at photopic luminance of 250 cd/m². A 2-minute interval between the flashes was introduced. Baseline pupil diameter (BPD), peak pupil constriction (PPC), and postillumination pupillary response (PIPR) were extracted from the PLR. Group comparisons were performed with ANOVAs. Results: Dark-adapted BPD was comparable among the groups, whereas PPC to the red light was slightly reduced in patients with myopia (P = 0.02). PIPR at 6 seconds elicited by the blue flash was significantly weaker (P < 0.01) in female patients with MYP-26, whereas it was normal in the M-CTRL group and the asymptomatic male carrier. Conclusions: L/M-cone abnormalities due to ARR3 gene mutation is currently claimed to underlie the pathological eye growth in MYP-26. Our results suggest that malfunction of the melanopsin system of intrinsically photosensitive retinal ganglion cells (ipRGCs) is specific to patients with symptomatic MYP-26, and may therefore play an additional role in the pathological eye growth of MYP-26.

Choriocapillary Flow Correlation with Axial Length in High Myopia - An Angiography Study with Optical Coherence Tomography.

PURPOSE: To investigate parameters of retinal and choroidal microcirculation quantitatively with optical coherence tomography angiography (OCTA) in high myopic children, and to explore potential correlations with age, axial length (AL), spherical equivalent (SE), and central retinal thickness (CRT). METHODS: En face angiograms were generated with an OCTA device and evaluated with automated density and flow analyzer algorithms. Perfusion parameters were correlated with age, AL, SE, and CRT using Spearman's rank correlation analysis. Repeatability and reproducibility of perfusion parameter measurements were calculated in a high myopic cohort. RESULTS: Repeatability and reproducibility of OCTA measurements were good, ranging from 3.6 - 6.5%. Strong positive correlation was identified between age and CRT (rho = 0.673, p = 0.00) as well as between AL and SE (rho = 0.844, p = 0.00). There was a strong negative correlation between AL and choriocapillary flow density (CCFD) (rho = - 0.612, p = 0.00), and a moderate negative correlation between age and superficial parafoveal retinal vessel density (SPRVD) as well as CCFD (rho = - 0.497, p = 0.013 and rho = - 0.483, p = 0.023, respectively). CONCLUSION: OCTA appears to be a reliable tool for the quantitative investigation of retinal and choroidal microcirculation in a high myopic pediatric cohort. CCFD reduction was associated with increasing AL in this cohort.

Results with Posterior Scleral Reinforcement for Progressive Highly Myopic Children in Hungary.

PURPOSE: We have been performing posterior scleral reinforcement in our ophthalmological department since 1992 on progressive highly myopic eyes. Here, we report on our results with this technique in the foregoing 7 years in a retrospective comparative design. METHODS: Thirty-eight eyes of 32 patients, operated according to Snyder-Thompson's method, were enrolled in this study, and a control group of 9 age- and myopia-matched children's 14 eyes was built for comparison. Pre- and postoperative best-corrected visual acuity, subjective refractive error (spherical equivalent of spectacle dioptres), and axial length were recorded. Changes within groups were calculated, as well as baseline parameters and their changes during follow-up, and compared between the groups. Correlation analysis was performed to identify factors that could influence myopia progression. RESULTS: Myopic progression was significantly lower in the operated than in the nonoperated group, both in terms of mean annual axial length as well as refractive error changes (0.21 ± 0.08 mm versus 0.49 ± 0.19 mm and 0.18 ± 0.29 D versus 0.6 ± 0.33 D, respectively). Mean overall visual improvement was more explicit in operated eyes as compared to those left untreated (0.15 ± 0.09 versus 0.01 ± 0.1). No association of any factor with myopia progression could be identified. We encountered no serious or lasting complications. CONCLUSION: In our clinical practice, posterior scleral reinforcement according to Snyder-Thompson proved to be a safely applicable and effective surgical method to stop or significantly retard pathological increases in axial length and dioptres, and thus can help prevent the onset of myopic degenerative lesions, and irreversible visual impairment in the long run.

Replacement of the lower eyelid after tumor removal / Az alsó szemhéj pótlása tumoreltávolítás után

Összefoglaló. Bevezetés: A tumoreltávolítás miatt végzett teljes alsószemhéj-pótlás összetett feladat lehet. A rekonstrukció célja a kielégíto funkcionális és kozmetikai eredmény elérése. Célkituzés: A módosított Fricke-lebennyel végzett rekonstrukció tapasztalatainak bemutatása az alsó szemhéj teljes hiánya esetén. Módszer: 2010. január és 2020. december között 7 beteg esetében tumoreltávolítás után végeztünk alsószemhéj-rekonstrukciót módosított Fricke-lebennyel. A lebeny képzése a halántéktájon történt. A betegek átlagéletkora 72,8 év volt. A szövettani eredmény minden esetben basocellularis carcinoma volt. Az átlagos követési ido 1,9 év volt. Eredmények: Minden esetben jó funkcionális és esztétikai eredményt értünk el. Lebenynecrosist, sebelégtelenséget nem tapasztaltunk. A korai posztoperatív szakban átmeneti conjunctiva- és szemhéjoedema volt tapasztalható. 3 beteg esetében könnyezés, 1 beteg esetében érinto szorök okozta szemszúródást észleltünk. Recidíva nem alakult ki a követési ido alatt. Következtetés: Tapasztalataink szerint a módosított Fricke-lebeny kiváló funkcionális és esztétikai eredményt ad a tumoreltávolítás utáni teljes alsószemhéj-rekonstrukcióban. Orv Hetil. 2021; 162(29): 1180-1184. INTRODUCTION: The full-thickness lower eyelid reconstruction after tumor removal can be a complex challenge. The aim of reconstruction is to reach an appropriate functional and cosmetic result. OBJECTIVE: To present the retrospective analysis of the reconstruction's experience with the use of Fricke's flap in the case of full-thickness lower eyelid defect. METHOD: Between January 2010 and December 2020, in the case of 7 patient's after tumor excision on lower eyelid, reconstruction was performed with a modified Fricke's flap. The Fricke's flap was fashioned in the temple region. The patients' average age was 72.8 years. The histological result was basocellular carcinoma in every case. The average follow-up period was 1.9 years. RESULTS: In all cases, good functional and cosmetic result was detected. There were not any flap necrosis and wound dehiscence. In the early postoperative period, temporary edema of the eyelid and conjunctiva was detected. Epiphora occurred in the case of 3 patients and we observed eye irritation caused by skin hair in the case of 1 patient. Tumor recurrence was not detected during the follow-up period. CONCLUSION: In our experience, the modified Fricke's flap has excellent functional and aesthetic results in the reconstruction after tumor removal on the lower eyelid. Orv Hetil. 2021; 162(29): 1180-1184.

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.

BACKGROUND: Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis. RESULTS: We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. CONCLUSIONS: This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

Screening for multiresistant pathogens before cataract surgery / Multirezisztens kórokozók szurése szürkehályog-mutét elott

Összefoglaló. Bevezetés: A multirezisztens kórokozók által okozott fertozések komoly gondot okoznak. Szemészeti szempontból az ebbe a körbe tartozó meticillinrezisztens Staphylococcus aureus (MRSA) baktérium bír kiemelkedo jelentoséggel. Célkituzés: Multirezisztens kórokozók irányában cataractamutét elott álló betegektol mintavétel és adatelemzés. Módszer: 257, cataractamutét elott álló beteg esetében végeztünk multirezisztens kórokozók szurésére vizsgálatot a conjunctivazsákból. A mikrobiológiai tenyésztés során multirezisztens kórokozóra pozitív eredményt adó betegek esetében a preoperatív kórtörténetet és az általános kíséro betegségeket feltártuk és elemeztük. Eredmények: A minták 17 beteg esetében multirezisztens kórokozóra pozitívak voltak. 11 esetben szisztémás rizikófaktorokat is találtunk. A pozitív betegeknél a mutétet csak a felszabadító mikrobiológiai eredmények birtokában végeztük el. A dekolonizált betegeknél ezt követoen a szakmai protokoll normális antibiotikumprevencióját alkalmaztuk. A 257 beteg 6,6%-ában találtunk multirezisztenskórokozó- és 5%-ában MRSA-pozitivitást. Posztoperatív endophthalmitis nem fordult elo. Következtetés: A cataractamutéteknél alkalmazott antibiotikus endophthalmitisprevenció multirezisztens kórokozóra pozitív betegeknél kevéssé hatékony lehet. Ezért javasolt a veszélyeztetett betegek multirezisztens kórokozókra történo szurése és dekolonizációja. Orv Hetil. 2021; 162(3): 106-111. INTRODUCTION: Infections caused by multiresistant pathogens may have serious consequences. In ophthalmological practice, methicillin-resistant Staphylococcus aureus (MRSA) is the most important multiresistant pathogen. OBJECTIVE: We took samples for multiresistant pathogens from patients assigned for cataract surgery. METHOD: We carried out multiresistant pathogen screening from conjunctival sac in 257 patients, who were assigned for cataract surgery. Preoperative case history and concomitant systemic diseases were evaluated in patients, who turned out to be positive for multiresistant pathogens during the screening procedure. RESULTS: The samples were positive for multiresistant pathogens in 17 patients. In the case history of 11 multiresistant pathogen positive patients, previous systemic risk factors could be explored. Multiresistant pathogen positive patients were operated only after the decolonisation. After the decolonisation, the normal antibiotic prevention was used before the surgery. Multiresistant pathogen positive was 6.6%, MRSA positive was 5% of the 257 patients. There were no cases of endophthalmitis in any of these patients. CONCLUSION: Endophthalmitis prevention with antibiotics, according to the guidelines, may not be efficient in multiresistant pathogen positive patients. Therefore, it is advisable to screen multiresistant pathogens and decolonisation at risk patients before cataract surgery. Orv Hetil. 2021; 162(3): 106-111.

Retinal Nerve Fibre Layer Thickness Change After CO2 Laser-Assisted Deep Sclerectomy Surgery.

PURPOSE: The goal of our study was to investigate changes in intraocular pressure (IOP), best-corrected visual acuity (BCVA), and retinal nerve fibre layer thickness (RNFLT) after CO2 laser-assisted deep sclerectomy (CLASS). METHODS: We carried out uncomplicated CLASS surgeries and a 12-month follow-up on 22 open-angle glaucomatous (OAG) eyes of 22 patients. IOP, BCVA, and RNFLT with spectral-domain optical coherence tomography (SD OCT) were recorded before and 1, 3, 6, 12 months after surgery. RESULTS: Mean age of patients was 68.1 years. IOP decreased from preoperative 28.45±5.99 SD mmHg (mean±standard deviation) to 15.09±2.40 mmHg (p=0.00039) at 12 months after surgery. BCVA-change from preoperative 0.34±0.38 SD (LogMAR) to 0.37±0.41 SD (LogMAR) was not significant (p=0.2456). RNFLT-change from preoperative 60.50±18.15µm to 59.63±17.52 µm at 12 months postoperatively was not significant (p=0.056). Qualified success rate of CLASS surgery was 72.7%, whereas complete success rate was 64% at 1 year postoperatively. CONCLUSION: Successful CLASS surgery efficiently reduced IOP. At postoperative 12 months, RNFLT and BCVA were not reduced significantly. There was no significant glaucomatous progression after surgery encountered in respect of investigated parameters.

[Corneal disorders in Wilson's disease]. / Cornealis elváltozások Wilson-kórban.

Wilson's disease is an autosomal recessive hereditary metabolic disease with a pathological accumulation of copper in tissues. This study presents the case of a family, where two females and one male from among six siblings had this disease. While in the case of the two women only the liver was affected, the young man presented with both psychiatric and ophthalmic disorders. Modern examination methods (anterior segment optical coherence tomography, corneal topography, endothelial specular microscopy) were used to gather data on the corneal disorder that manifested with the classic Kayser-Fleischer ring. We underline the importance of ophthalmological checkup which may help to diagnose this disease. Orv Hetil. 2019; 160(14): 555-557.

[Histological investigation of the walls of lacrimal sacs removed in the course of dacryocystorhinostomy]. / Dacryocystorrhinostomia mutétek során eltávolított könnytömlominták szövettani elemzése.

INTRODUCTION: Endonasal dacryocystorhinostomy (EDCR) has good results. AIM: To perform a prospective histological investigation of the removed lacrimal sacs' walls. METHOD: Between 2016 and 2017, we carried out 21 operations in two groups: inflammatory (11 patients) and non-inflammatory (10 patients) lacrimation groups. The mean age was 60.5 years. Histological samples were investigated after staining them with hematoxylin-eosin. RESULTS: In the non-inflammatory group, histology revealed the incipient metaplasia of the ciliated goblet cells. In the lacrimal sac's wall, there is a chronic inflammation with mucinous metaplasia of the serous glands. In the inflammatory group, the metaplasia of the ciliated goblet cells is more pronounced. Chronic fibrotic inflammation destroys the lacrimal sac's wall, which is dilated, ruptured. The mucinous metaplasia of the serous glands is pronounced. CONCLUSIONS: The results of histological investigations of the lacrimal sacs removed in the course of EDCR are much alike in the inflammatory and non- inflammatory groups. Orv Hetil. 2018; 159(52): 2207-2211.

[Experiences with CO2 laser-assisted sclerectomy surgery]. / CO2-lézerrel végzett mélysclerectomiával szerzett tapasztalatok.

INTRODUCTION: CO2 laser- assisted sclerectomy surgery (CLASS) can be used for the surgical treatment of open-angle glaucoma. AIM: To introduce our results with CLASS. METHOD: We performed 21 CLASS operations using OT-134-IOPtiMate (IOPtima Ltd, Ramat-Gan, Israel). Patients were examined on the 1st day, and in the 1st, 3rd, 6th, 9th and 12th months postoperatively. We evaluated intraocular pressure (IOP), antiglaucomatous medication-use, visual acuity, complications. RESULTS: Mean age was 65.6 yrs. Complete success (no hypotensive medication required to target IOP) was achieved in 61.1% (18 patients) at 6 months, whereas in 50% (10 patients) at 12 months. Qualified success (hypotensive medication required to target IOP) was achieved in 72.2% and in 70%, preoperative mean IOP was 29.2 ± 9.4 Hgmm, which falled to 17.7 ± 4.9 Hgmm and 17.3 ± 4.3 Hgmm, respectively. Antiglaucomatous medication use falled significantly from 2.90 ± 0.83 to 2.05 ± 1.46. Apart from 1 macroperforation, no serious complication occurred. CONCLUSIONS: With CLASS it is possible to effectively lower intraocular pressure in open-angle glaucoma. Orv Hetil. 2017; 158(18): 701-705.

The comparative study of two recently developed A-scan devices: determination of central corneal thickness, anterior chamber depth and axial length.

PURPOSE: The clinical use and comparison of two recently developed A-scan ultrasound devices. METHODS: The same investigator determined central corneal thickness (CCT), anterior chamber depth (ACD) and axial length (AL) with an OcuScan RxP (Alcon, Forth Worth, Texas, USA) and an AL-2000 (Tomey, Erlangen, Germany) ultrasound device in 80 eyes of 40 patients. The mean patient age was 63.72 years [standard deviation (SD) 18.92]. The patients did not suffer from any systemic or eye disease affecting the anterior and posterior segments of the eye, and their refractive error (spherical and astigmatic) did not exceed +/- 3.0 dioptres. RESULTS: The value of the CCT was 541.55 (SD 34.97) microm with the OcuScan RxP, and 547.46 (SD 35.70) microm with the AL-2000 device (P < 0.001). With respect to the ACD and AL, significantly lower values were obtained with the AL-2000 instrument (P < 0.001). The ACD was 2.92 (SD 0.48) mm with the AL-2000 and 3.07 (SD 0.47) mm with the OcuScan RxP device. The AL was 22.67 (SD 0.84) mm with the AL-2000 and 22.81 (SD 0.87) mm with the OcuScan RxP instrument. However, a positive and significant correlation could be demonstrated between the devices (r = 0.88 CCT, r = 0.86 ACD and r = 0.91 AL; P < 0.001). CONCLUSION: The instruments are reliable in clinical use; however, statistically significant differences were found between the devices. During patient follow-up, the devices cannot simply be used interchangeably.

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.

PURPOSE: To identify mutations in the Transforming Growth Factor Beta Induced (TGFBI) gene in Hungarian patients with corneal dystrophy and to characterize histological features of their corneal buttons excised during penetrating keratoplasty. METHODS: Exons of TGFBI were sequenced in 38 members of 15 unrelated families with corneal dystrophy and exon 12 was also sequenced in 100 healthy controls from the same population. Immunohistological analysis of available corneal buttons excised during penetrating keratoplasty was also performed. RESULTS: Molecular genetic analysis revealed a heterozygous R124C mutation in 18 patients with lattice type I dystrophy. A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy. Three patients with "atypical granular" dystrophy later diagnosed as Avellino dystrophy were heterozygous for the R124H mutation. A novel heterozygous mutation (T1640C) causing a F547S amino acid exchange was detected in a patient with polymorphic corneal amyloidosis. Immunohistochemistry showed the presence of BIGH3 protein deposits in all examined corneal buttons. Electron microscopy confirmed the presence of amyloid fibrils in the case of the novel mutation. CONCLUSIONS: Our results indicate that molecular genetic analysis is required to confirm the diagnosis of corneal dystrophies. We report the first cases of Avellino dystrophy from Central-Eastern Europe. We conclude that the novel F547S mutation causes polymorphic corneal amyloidosis since no other mutations were detected in the TGFBI gene of this patient and the novel mutation could not be found in healthy controls.

Combined local treatment and chemotherapy in the management of bilateral retinoblastomas in Hungary.

This retrospective study supports that brachytherapy combined with cytostatic therapy may effectively contribute to tumor control. The second eye of 13 patients with bilateral retinoblastoma was treated with plaque brachytherapy after the enucleation of the first eye. Eleven patients received systemic cytostatic therapy. The mean follow up was 60 (+/-42 SD) months. Twelve patients are alive and free of tumor, 8 of them with acceptable visual acuity. After cytostatic therapy, late nephropathy was observed in 2 patients. In conclusion, brachytherapy combined with cytostatic therapy will be an option in the management of bilateral retinoblastoma after the enucleation of the first eye.

Microcornea associated with myopia.

BACKGROUND: The presentation of microcornea associated with axial myopia by means of modern examination techniques. METHODS: Clinical investigations. RESULTS: The horizontal diameter of the cornea was 8.00 mm on both sides. The average refractive power of the cornea was 39.27D/38.48D on the right/left sides by corneal topography. The central corneal thickness was 568 micro m/559 micro m on the right and left sides, respectively. The depth of the anterior chamber was 1.18 mm/1.14 mm and the origin of the irises was steep, as demonstrated by ultrasound biomicroscopy (UBM). The axial length was 26.42 mm/25.63 mm on the right/left sides. Endothelial morphology disclosed degeneration on both sides. CONCLUSIONS: The present case demonstrates that the clinical signs of microcornea are flat corneal surface, normal thickness, and degenerated endothelium. This disorder associated with axial myopia is an extremely rare ophthalmologic condition.