Bubble-graft coverage after Descemet Membrane Endothelial Keratoplasty depending on gaze angle.

PURPOSE: In Descemet Membrane Endothelial Keratoplasty (DMEK) a gas bubble is usually used to attach the graft to the host cornea. In this study, we observed the bubble size and bubble-graft coverage at different gaze angles following DMEK. METHODS: This observational prospective study analyzed 465 images of patients who underwent an uneventful DMEK. Intraoperatively, the anterior chamber was filled up to 90% of its volume with a 20% Sulfur Hexafluoride (SF6) gas-air mixture. Postoperatively, the bubble was photographed daily in different gaze angles ranging from a supine position (0°) to an upright position (90°) and a slightly inclined position (105°). The primary outcomes were bubble-graft coverage and bubble diameters depending on the gaze angle and time after DMEK. RESULTS: The highest bubble-graft coverage was achieved at a 0° gaze angle at all times of measurement. In the first 48 h after DMEK, the mean bubble-graft coverage was over 85% at a gaze angle between 0° and 45°. Starting 72 h after DMEK, the graft coverage declined at all gaze angles. The graft coverage at a 0° gaze angle was 88.61 ± 10.90% after 96 postoperative hours, while the graft coverage was below 85% at all other gaze angles. CONCLUSION: Our clinical results provide novel insight into variation in bubble-graft coverage as a function of gaze angle and may be used to aid in patient counselling for appropriate body positioning following DMEK to prevent early graft detachment. Maintaining supine positioning seems to be most advantageous starting 48 h after DMEK.

Early intraocular lens explantations: 10-year database analysis.

BACKGROUND: The aim of this study was to analyze the causes and characteristics of IOL explantation within the first year after primary implantation. METHODS: In this retrospective, cross sectional database study, a database consisting of over 2500 IOL explants sent from 199 national and international doctors over the past 10 years was analyzed. All IOLs explanted within the first year after implantation were included in this analysis. Explants with insufficient information as well as phakic and Add-on IOLs were excluded. Main outcome measures were the reason for explantation, the time between implantation and explantation, as well as IOLs' and patients' characteristics. Additionally, the explanted IOLs were microscopically and histologically analyzed, as required. RESULTS: Of all explanted IOLs from the database, 1.9% (n = 50) were explanted within the first year after implantation. The most frequent reasons for early IOL explantation were IOL dislocation (32%), visual intolerance (26%), opacification (20%), and intraoperative complications (16%). The time between implantation and explantation was the shortest in cases with intraoperative complications (1.5 ± 3.1 days), followed by IOL dislocation (90.9 ± 103.9 days), visual intolerance (98.3 ± 86.5 days), opacifications (253.5 ± 124.0 days) and other indications (249.7 ± 124.0 days). Calcification of hydrophilic IOLs was the main type of opacification (80%). Notably, seven IOLs required immediate intraoperative exchange due to an intraoperative crack in the optic or a torn off haptic. CONCLUSION: Indications for early IOL explantation were IOL dislocation, visual intolerance, opacification, and intraoperative complications. Especially intraoperative damages to the IOL and early calcification show a potential for improvement of affected IOLs and implantation systems.

[Overview of intraocular lenses with optics for correcting presbyopia]. / Übersicht über Intraokularlinsen mit Presbyopie-korrigierenden Optiken.

BACKGROUND: In recent years intraocular lenses (IOLs) for correcting presbyopia have been significantly improved and diversified. There are currently many different IOL models based on a wide variety of optical designs. OBJECTIVE: The wide variety of available IOL solutions to correct presbyopia can be challenging for surgeons and patients. In everyday practice, the question is which IOL is best for which patient. MATERIAL AND METHODS: This overview describes and categorizes the currently available implants. The respective optical properties are analyzed and clinical study results are discussed, in particular those evaluating visual performance and the occurrence of photic phenomena. RESULTS: Monofocal-plus IOLs provide improved intermediate visual acuity with optimal distant visual acuity and minimal photic phenomena. Extended depth of field (EDoF) IOLs extend the depth of field through different optical principles and provide good distant and intermediate visual acuity. Trifocal lenses enable the greatest independence from spectacles at the price of a higher probability of dysphotopsia. CONCLUSION: The selection of the most suitable IOL for correction of presbyopia requires a balance between the patient's visual needs and possible side effects. An adequate knowledge of the currently available implants allows a patient-oriented selection of IOLs.

Further characterization of ARSK-related mucopolysaccharidosis type 10.

Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK-related MPS type 10. Interestingly, vertebral involvement regressed during follow-up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long-term results on a recently discovered form of MPS.

Cataract Classification Systems: A Review.

Cataract is among the leading causes of visual impairment worldwide. Innovations in treatment have drastically improved patient outcomes, but to be properly implemented, it is necessary to have the right diagnostic tools. This review explores the cataract grading systems developed by researchers in recent decades and provides insight into both merits and limitations. To this day, the gold standard for cataract classification is the Lens Opacity Classification System III. Different cataract features are graded according to standard photographs during slit lamp examination. Although widely used in research, its clinical application is rare, and it is limited by its subjective nature. Meanwhile, recent advancements in imaging technology, notably Scheimpflug imaging and optical coherence tomography, have opened the possibility of objective assessment of lens structure. With the use of automatic lens anatomy detection software, researchers demonstrated a good correlation to functional and surgical metrics such as visual acuity, phacoemulsification energy, and surgical time. The development of deep learning networks has further increased the capability of these grading systems by improving interpretability and increasing robustness when applied to norm-deviating cases. These classification systems, which can be used for both screening and preoperative diagnostics, are of value for targeted prospective studies, but still require implementation and validation in everyday clinical practice.

Material Analysis of Explanted Calcified Silicone Intraocular Lenses in Association with Asteroid Hyalosis.

INTRODUCTION: The aim of this study was to analyze posterior surface opacification in explanted silicone intraocular lenses (IOLs) with clinicopathologic correlation to asteroid hyalosis. METHODS: In a laboratory setup, 12 explanted silicone IOLs underwent laboratory analyses, including light microscopy, scanning electron microscopy (SEM), and energy-dispersive X-ray spectroscopy for elemental composition (EDX). Relevant clinical data were obtained for each case, including gender, age at IOL implantation, dates of implantation and explantation, as well as history of neodymium-dopped yttrium aluminum garnet (Nd:YAG) laser treatments or other opacification removal attempts. High-resolution optical coherence tomography (OCT) images were obtained in vitro with an anterior segment OCT device (Anterion, Heidelberg Engineering, Heidelberg, Germany). RESULTS: Calcification located at the posterior optic surface of each lens was identified through SEM and EDX analyses, revealing deposits composed of hydroxyapatite. In all cases, IOL polishing using Nd:YAG laser had been attempted prior to IOL exchange. The clinical functional data showed that this type of IOL opacity led to increase in straylight and subjective symptoms of glare. CONCLUSIONS: Silicone IOLs can develop posterior surface calcification in eyes with asteroid hyalosis. There are mechanical techniques of cleaning the IOL surface but in many cases, IOL explantation is the only sustainable way to reduce the patients' straylight levels and glare symptoms. Due to the risk of posterior surface calcification, silicone IOL implantation should be avoided in eyes with asteroid hyalosis.

Altering chromatic aberration: how this latest trend in intraocular-lens design affects visual quality in pseudophakic patients.

BACKGROUND: Chromatic aberration of the eye results from the dispersion of polychromatic light at the interfaces of ocular media. An intraocular lens (IOL) based approach utilizing the diffractive-multifocal principle has been proposed for its correction, but the clinical evidence on the impact of reducing or increasing chromatic aberration on the visual quality of pseudophakic patients remains scarce. METHODS: In this cross-sectional study, longitudinal chromatic aberration (LCA) effects were studied monocularly in 37 patients implanted with a monofocal lens. LogMAR corrected distance visual acuity (VA) and defocus curve at the + 1.0 D to - 2.0 D range were assessed. Contrast sensitivity (CS) was evaluated at far and at four spatial frequencies. Measurements were performed with the eye's natural conditions, as well as with increased and corrected (by the same amount) LCA, which was altered by introducing zero-power trial triplets. RESULTS: The mean (± standard deviation) logMAR VA was - 0.11 ± 0.07 for the natural condition, - 0.13 ± 0.07 for the LCA-corrected eye, and - 0.06 ± 0.08 for the eye with increased LCA. A sharp decline of the defocus tolerance was found after the LCA correction with the VA value of 0.38 ± 0.15 logMAR at - 1.5 D. However, for the natural and increased LCA, it was 0.32 ± 0.16 logMAR and 0.25 ± 0.13 logMAR, respectively. CS was improved at all spatial frequencies after the LCA correction, which was closely followed by the natural-eye performance. Increased LCA resulted in reduced CS, mainly at higher spatial frequencies. CONCLUSIONS: We demonstrated that elevating chromatic aberration above the natural level of monofocal patients extends their depth of focus while causing a measurable albeit minimal reduction in visual function. Still, the observed changes indicate that neither correction nor increase of LCA yields a substantial clinical effect on distance VA and CS in monofocal pseudophakia.

Management preferences of orthopedic surgeons in developmental dysplasia of the hip under 1 year of age in Türkiye: Results of a nationwide cross-sectional survey.

OBJECTIVE: This study aimed to evaluate the diagnosis and treatment preferences of orthopedic surgeons in developmental dysplasia of the hip (DDH) cases under the age of 1 in Türkiye with a higher incidence of DDH, estimated to be around 5-15 per 1000 live births. METHODS: This was a nationwide cross-sectional survey. A link for the online survey, including 16 multiple-choice questions, was sent to the email group of the National Orthopedic Society. RESULTS: Among 233 filled-out surveys, 211 met the inclusion criteria. Half of the participants had experience of <10 years as orthopedic surgeons, managed <25% of pediatric patients in daily practice, and treated <25 DDH cases per year before walking age. Ninety-seven percent used more than one method, hip ultrasound the most common, for exact diagnosis of DDH under 6 months. Pavlik harness was the most commonly preferred brace, but the use of Tübingen orthosis increased among experienced surgeons. The uppermost age limit for bracing was higher in surgeons dealing with more pediatric patients and treating more DDH cases. Dislocated hips and hips requiring closed/open reduction were more commonly referred to other surgeons by less experienced surgeons in terms of years, number of pediatric patients, and treated DDH cases per year. The lowest age limit for intervention under general anesthesia was lower in surgeons treating >25 DDH cases per year. Over one-third used both anterior and medial approach open reduction, but a trend to anterior open reduction alone was more evident in surgeons treating >50 DDH cases per year. More experienced surgeons were more prone to check the intraoperative reduction with postoperative computed tomography or magnetic resonance imaging. Diagnosis and treatment ages of DDH cases did not significantly change during the coronavirus disease 2019 pandemic. CONCLUSION: Management preferences of orthopedic surgeons in DDH before walking age primarily depend on the rate of pediatric patients in daily practice and the number of treated DDH cases per year.

In vivo comparison of implantation behavior and laboratory analysis of two preloaded intraocular lens injectors.

PURPOSE: We evaluated implantation behavior and injector damage of two different IOL injector systems, the Multisert and the AutonoMe. DESIGN: Prospective, randomized, comparative study with laboratory investigation. METHODS: We examined used injectors from 48 bilateral cataract cases and assessed video recordings of each Implantation. All eyes were intraindividually randomized for treatment with one of the two IOL injectors. Implantation videos were reviewed for inadvertent events and the time for different implantation steps was determined. The injector nozzle tips were examined using light and scanning electron microscopy (SEM). Damage was graded using the Heidelberg Score for IOL injector damage (HeiScore). Three months postoperatively, IOLs were assessed for material changes. RESULTS: Implantation was without critical events in 96 of 96 eyes. Mean implantation time was 41.90 ± 7.11 s with the Multisert and 52.22 ± 12.06 s with the AutonoMe. In the AutonoMe group, we observed 4 eyes (8.3%) with a failed docking attempt, 28 eyes (58.3%) with a haptic adherence, one case (2.1%) of straight leading haptic and 2 cases (4.2%) of intrawound IOL manipulation. There were no events observed in the Multisert group. The mean HeiScore values were 0.87 ± 0.61 and 3.68 ± 0.47 for the AutonoMe and Multisert. 3 months postoperatively, IOL material changes were absent. CONCLUSIONS: Both injectors allowed safe and controlled implantation. Using Multisert, implantation behavior was more consistent. The injectors showed different damage profiles with a higher damage score for the Multisert.The study is registered at the German Clinical Trials Register (Deutsches Register Klinischer Studien; reference number: DRKS00007837).

Biomechanical Analysis of Tomographically Regular Keratoconus Fellow Eyes Using Corvis ST. / Biomechanische Analyse von tomografisch unauffälligen Keratokonus-Partneraugen mit dem Corvis ST.

BACKGROUND: Keratoconus is a bilateral, yet asymmetric disease. In rare cases, the second eye may show no signs of tomographic changes. The purpose of this study was to analyze the biomechanical characteristics in tomographically regular keratoconus fellow eyes. MATERIALS AND METHODS: This retrospective, consecutive case series analyzed 916 eyes of 458 patients who presented to our keratoconus clinic between November 2020 and October 2022. Primary outcome measures included best-corrected visual acuity (BCVA), tomographic Scheimpflug analysis using Pentacam AXL (Oculus, Wetzlar, Germany), and biomechanical assessment using Corvis ST (Oculus, Wetzlar, Germany). Tomographic changes were assessed via analysis of the anterior and posterior curvature, K-max, thinnest corneal thickness (TCT), the Belin/Ambrosio Deviation Display (BAD-D), and the ABCD-Grading. Biomechanical changes were analyzed using Corvis Biomechanical Index (CBI) and Tomographic Biomechanical Index (TBI). RESULTS: Of 916 eyes, 34 tomographically regular fellow eyes (7.4%) were identified and included in the analysis. Overall, the mean BCVA was - 0.02 ± 0.13 logMAR. Tomographic analysis showed mean K-max of 43.87 ± 1.21 D, mean TCT of 532 ± 23 µm, and mean BAD-D of 1.02 ± 0.43. Biomechanical analysis demonstrated mean CBI of 0.28 ± 0.26 and mean TBI of 0.34 ± 0.30. While normal CBI-values were observed in 16 (47%) of 34 eyes, only 13 eyes (38%) showed a regular TBI and only 7 eyes (21%) showed regular TBI and CBI. The sensitivity of CBI and TBI to detect a tomographically normal keratoconus fellow eye was 53% and 62%, respectively. CONCLUSION: A highly asymmetric corneal ectasia with regular tomographic finding in a fellow eye is rare among keratoconus patients. In such cases, a biomechanical analysis may be useful in detecting early signs of corneal ectasia. In our analysis, the TBI showed high sensitivity for detecting a biomechanical abnormality in tomographically regular fellow eyes.

Differential Diagnosis of Changes in Intraocular Lenses. / Differenzialdiagnostik von Veränderungen in Intraokularlinsen.

Differentiating between various intraocular lens (IOL) changes can be a challenge. In particular, certain IOL models carry the risk of late postoperative calcification. A major cause of IOL exchange surgery could be avoided if appropriate modifications were made during the IOL manufacturing process. The use of a hydrophilic acrylate carries the risk of IOL calcification, especially when a secondary procedure, such as a pars plana vitrectomy or other procedures using gas or air, is performed. In secondary IOL calcification, there is a wide range of opacification patterns, which are usually located in the centre on the anterior surface of the IOL or sometimes elsewhere. Often, granular deposits accumulate just below or on the surface of the IOL, leading to significant deterioration in visual quality and eventually requiring IOL exchange surgery. Therefore, in the case of eyes requiring secondary surgical intraocular intervention in the future, the use of hydrophilic IOLs should be critically evaluated. With regard to hydrophobic IOL materials, there are clear differences in the susceptibility to the formation of glistenings. Over time, there has been a significant decrease in glistening formation over the past 30 years due to optimisation of the material. With hydrophobic IOLs, special care should also be taken to avoid mechanical damage. In general, the only treatment option for functionally-impairing IOL opacification is surgical lens exchange, which carries potential risks of complications. In cases with a low degree of functional impairment, and especially in eyes with additional ocular diseases, it may be difficult to weigh the risk of additional surgery against the potential benefit. In some cases, it may be more appropriate not to perform an IOL exchange despite the IOL opacification. Recent visualisation methods that allow high-resolution analysis of the opacities in vivo and in vitro may be used in the future to estimate the functional effects of various IOL material changes on the optical quality.

Capsule Dynamics, Implantation, and Explantation of the Smaller Incision, New-Generation Implantable Miniature Telescope: a Miyake-Apple Study.

PURPOSE: The smaller incision, new-generation implantable miniature telescope is a novel implant to optimize vision in retinal patients with central vision loss. Using Miyake-Apple techniques we visualized the device implantation, repositioning, and explantation, while noting capsular bag dynamics. METHODS: Using the Miyake-Apple technique, we assessed capsular bag deformation after successful implantation of the device in human autopsy eyes. We assessed rescue strategies for converting a sulcus implantation to a capsular implantation and explantation strategies. We noted the occurrence of posterior capsule striae, zonular stress, and the haptics' arc of contact with the capsular bag after implantation. RESULTS: Acceptable zonular stress was observed during the successful implantation of the SING IMT. When it was implanted in the sulcus, one could reposition the haptics into the bag with two spatulas using counter-pressure in an effective strategy despite inducing tolerable, medium zonular stress. A similar technique, in reverse, allows safe explantation without damaging the rhexis or the bag, while inducing similar medium, tolerable zonular stress. In all eyes we examined, the implant considerably stretches the bag, inducing a capsular bag deformation and posterior capsule striae. CONCLUSION: The SING IMT can be safely implanted without significant zonular stress. In sulcus implantation and explantation, repositioning of the haptic is achievable without perturbing zonular stress using the presented approaches. It stretches average-sized capsular bags to support its weight. This is achieved by an increased arc of contact of the haptics with the capsular equator.

Reversible Multifocality Achieved Through Polypseudophakia. / Reversible Multifokalität durch Polypseudophakie.

Simultaneous implantation of a monofocal or monofocal toric intraocular lens (IOL) into the capsular bag and a multifocal IOL into the ciliary sulcus, referred to as duet procedure, allows us to create multifocality that is more easily reversible than the implantation of a capsular bag-fixated multifocal IOL. The optical quality and results after the duet procedure are equivalent to those of a capsular bag-fixated multifocal IOL. Patients who cannot tolerate the side effects of multifocal optics or who develop an ocular condition leading to loss of function such as age-related macular degeneration (AMD) or glaucoma in the course of their lives may benefit from the reversibility of the procedure.

Clinical Characteristics of Patients with Intraocular Lens Calcification after Pars Plana Vitrectomy.

AIM: To determine the clinical risk factors that may increase the occurrence of intraocular lens (IOL) calcification in patients who had undergone pars plana vitrectomy (PPV). METHODS: The medical records of 14 patients who underwent IOL explantation due to clinically significant IOL opacification after PPV were reviewed. The date of primary cataract surgery, technique and implanted IOL characteristics; the time, cause and technique of PPV; tamponade used; additional surgeries; the time of IOL calcification and explantation; and IOL explantation technique were investigated. RESULTS: PPV had been performed as a combined procedure with cataract surgery in eight eyes and solely in six pseudophakic eyes. The IOL material was hydrophilic in six eyes, hydrophilic with a hydrophobic surface in seven eyes and undetermined in one eye. The endotamponades used during primary PPV were C2F6 in eight eyes, C3F8 in one eye, air in two eyes and silicone oil in three eyes. Two of three eyes underwent subsequent silicone oil removal and gas tamponade exchange. Gas in the anterior chamber was detected in six eyes after PPV or silicone oil removal. The mean interval between PPV and IOL opacification was 20.5 ± 18.6 months. The mean BCVA in logMAR was 0.43 ± 0.42 after PPV, which significantly decreased to 0.67 ± 0.68 before IOL explantation for IOL opacification (p = 0.007) and increased to 0.48 ± 0.59 after the IOL exchange (p = 0.015). CONCLUSIONS: PPV with endotamponades in pseudophakic eyes, particularly gas, seems to increase the risk for secondary IOL calcification, especially in hydrophilic IOLs. IOL exchange seems to solve this problem when clinically significant vision loss occurs.

[Hydrophobic surface properties of hydrophilic acrylic lenses do not protect against calcification]. / Hydrophobe Oberflächeneigenschaften hydrophiler Acryllinsen schützen nicht vor Kalzifikation.

BACKGROUND: Opacification through calcification of hydrophilic acrylic intraocular lenses is a serious complication of cataract surgery, which usually results in explantation of the lens. In the process of calcification, the intraocular lens material plays a crucial role: calcification only occurs in hydrophilic acrylic lenses. Hydrophobic acrylic lenses show no crystal formation within the polymer. Hydrophilic acrylic lenses from some manufacturers have hydrophobic surface properties. The question arises as to what influence these surface properties have on the risk of calcification. OBJECTIVE: The present study investigated whether the hydrophobic surface properties of hydrophilic acrylic lenses can prevent calcification. MATERIAL AND METHODS: Using an electrophoretic in vitro model of calcification, two hydrophilic lenses with hydrophobic surface properties were compared to two hydrophilic lenses and a hydrophobic negative control to determine the risk of calcification. The lenses were then analyzed by optical microscopy, Alizarin Red and Von Kossa staining, scanning electron microscopy (SEM) and energy dispersive X­ray spectroscopy (EDX). RESULTS: All four hydrophilic lens models showed calcification within the polymer. No difference was found between the hydrophilic lenses and the hydrophilic lenses with hydrophobic surface properties in terms of crystal formation. The hydrophobic negative control showed no calcification. CONCLUSION: The investigation conducted in this study under standardized conditions could show that hydrophobic surface properties of hydrophilic acrylic lenses do not protect against calcium phosphate crystal formation within the polymer. There also is a risk of calcification in these lens models.

Refractive outcomes after DMEK: meta-analysis.

In this meta-analysis and systematic literature review of refractive outcomes after Descemet membrane endothelial keratoplasty (DMEK), the extent of the refractive shift and an overview of reasons for refractive shift after DMEK are provided. The PubMed library was screened for articles containing the terms "Descemet membrane endothelial keratoplasty," "DMEK," "Descemet membrane endothelial keratoplasty combined with cataract surgery," "triple-DMEK" combined with "refractive outcomes," "refractive shift," and "hyperopic shift." The refractive outcomes after DMEK were analyzed and compared using a fixed and random effects model. The overall mean change of the spherical equivalent outcome when compared with the preoperative value in cases of DMEK or when compared with the preoperative target refraction in cases of DMEK combined with cataract surgery was +0.43 diopters (D) (95% CI, 0.31-0.55). When DMEK is combined with cataract surgery, a target refraction of -0.5 D is recommended to achieve emmetropia. Changes in the posterior corneal curvature are identified as the main cause of the refractive hyperopic shift.

Randomized multicenter trial to assess posterior capsule opacification and glistenings in two hydrophobic acrylic intraocular lenses.

To evaluate the long-term posterior capsule opacification (PCO) formation, and glistening rate of the HOYA Vivinex (XY1) IOL compared to Alcon AcrySof (SN60WF). In this prospective, multicentric, randomized, paired-eye, open-label study, we included 87 subjects that underwent cataract surgery with IOL implantation, with 67 patients completing the 3-year follow-up. The completer population consisted of 32 subjects implanted with XY1 and 35 implanted with SN60WF. Primary endpoints consisted of the evaluation of glistenings and measurement of PCO. Secondary outcomes included Best Corrected Distance Visual Acuity (BCVA), Contrast Acuity (CA), uncorrected visual acuities, subjective refraction, medical and lens complication rates, adverse events, and optical/visual symptoms. Follow-up visits occurred at 6-months, 1-, 2- and 3-years. At 3-years follow-up, mean PCO score was 0.121 ± 0.193 for eyes implanted with Vivinex versus 0.239 ± 0.463 for AcrySof (p = 0.026). The Vivinex IOL showed statistically significantly lower glistening occurrence through 3-years postoperatively (0.14 ± 0.26) compared to AcrySof (1.79 ± 1.43; p < 0.0001). Postoperative visual acuities improved from baseline in both IOL groups (p < 0.0001), and remained stable through the 3-year follow-up period. Eyes implanted with a HOYA Vivinex IOL exhibited significantly lower occurrence of glistening at 3-years versus Alcon AcrySof (p < 0.0001). Incidence of PCO was very low and comparable in both Vivinex and AcrySof eyes.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

BACKGROUND: Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this study is to investigate the genetic etiology and prognostic findings in patients with metaphyseal dysplasia. METHODS: Twenty-four Turkish patients were included in this study and 13 of them were followed for 2-21 years. COL10A1, RMRP sequencing and whole exome sequencing were performed. RESULTS: Results: Seven heterozygous pathogenic variants in COL10A1 were detected in 17 patients with Schmid type metaphyseal chondrodysplasia(MCDS). The phenotype was more severe in patients with heterozygous missense variants (one in signal peptide domain at the N-terminus of the protein, the other, class-1 group mutation at NC1 domain) compared to the patients with truncating variants. Short stature and coxa vara deformity appeared after 3 and 5 years of age, respectively, while large femoral head resolved after the age of 13 years in MCDS group. Interestingly, one patient with severe phenotype also had a biallelic missense variant in NC1 domain of COL10A1. Three patients with biallelic mutations in RMRP had prenatal onset short stature with short limb, and typical findings of cartilage hair hypoplasia (CHH). While immunodeficiency or recurrent infections were not observed, resistant congenital anemia was detected in one. Biallelic mutation in LBR was described in a patient with prenatal onset short stature, short and curved limb and metaphyseal abnormalities. Unlike previously reported patients, this patient had ectodermal findings, similar to CHH. A biallelic COL2A1 mutation was also found in the patient with lower limb deformities and metaphyseal involvement without vertebral and epiphyseal changes. CONCLUSION: Long-term clinical characteristics are presented in a metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. We also point out that the domains where mutations on COL10A1 take place are important in the genotype-phenotype relationship.