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.

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.

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.

. 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) µm with the OcuScan RxP, and 547.46 (SD 35.70) µm 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.

Purpose To compare the accommodative amplitudes with three different methods in pseudophakic eyes with different types of intraocular lenses (IOLs

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 pathogenesisResults: 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.

ABSTRACT. We compared the accuracy and the reproducibility of the measurements using a Haag-Streit, a Shin-Nippon, and a Carl Zeiss keratometer and an EyeSys videokeratoscope. Two investigators performed 20 measurements on 3 calibrated steel balls and 5 measurements on 22 normal corneas with all instruments. Calculating the accuracy of the measurements the limits of the 95% confidence intervals of the bias were determined. The accuracy was better than ∫0.1D for the keratometers, whereas it was better than ∫0.25D for the EyeSys videokeratoscope. The coefficient of reproducibility (1.96¿standard deviation) on test balls and corneas was smaller than 0.25D in the case of the Shin-Nippon and Carl Zeiss keratometers and the EyeSys videokeratoscope whereas it was between 0.25-0.5D in the case of the Haag-Streit keratometer. The Carl Zeiss keratometer was the best with respect to the accuracy and reproducibility of the measurements. Paired t-test was used to find possible significant differences between the results of the two investigators, but only clinically insignificant differences were found.

Bevezetés: A CO 2 -lézeres mélysclerectomia (CLASS) a nyitott zugú glaucomás betegek sebészi kezelésében alkalmazható. Célkitűzés: A CLASS-műtéttel szerzett tapasztalataink ismertetése. Módszer: 21 CLASS-műtétet végeztünk OT-134-IOPtiMate (IOPtima Ltd, Ramat-Gan, Izrael) készülékkel. A betegeket a posztoperatív első napon, majd 1, 3, 6, 9 és 12 hónap múlva kontrolláltuk. Retrospektíven értékeltük a szemnyomás, antiglaucomás terápia és a visus alakulását, az intra-és posztoperatív szövődményeket. Eredmények: Az átlagéletkor 65,6 év volt. A teljes siker (szemcsepp nélkül elért célszemnyomás) a hatodik hónapra (18 beteg) 61,1%, míg a 12. hónapnál (10 beteg) 50% volt. A minősített siker (szemcseppel elért célszemnyomás) 72,2% és 70%, a preoperatív átlagos 29,2 ± 9,4 Hgmm-es szemnyomás rendre 17,7 ± 4,9 Hgmm és 17,3 ± 4,3 Hgmm volt. Jelentősen csökkent az antiglaucomás cseppek átlagos száma: 2,90 ± 0,83-ról 2,05 ± 1,46 értékre. Egy makroperforáción túl a műtét eredményességét befolyásoló egyéb lényeges szövődmény nem volt. Következtetések: CLASS-műtéttel tapasztalataink szerint hatékonyan csökkent-hető a szemnyomás nyitott zugú glaucomában. Orv Hetil. 2017; 158(18): 701-705. Kulcsszavak: CLASS, nyitott zugú glaucoma Experiences with CO 2 laser-assisted sclerectomy surgeryIntroduction: CO 2 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.