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Medical Hypothesis, Discovery &... 2023The most accurate method of intraocular lens (IOL) power calculation in cataract surgery has not been determined, and further studies are needed to reach a consensus....
BACKGROUND
The most accurate method of intraocular lens (IOL) power calculation in cataract surgery has not been determined, and further studies are needed to reach a consensus. The aim of this study was to assess publications related to IOL power calculation formulas, mapping their yearly trends, most productive authors, top publishing countries and institutions, and areas of specialization for IOL power formulas.
METHODS
We conducted a comprehensive analysis of research articles published on the topic of IOL power calculation formulas. Using PubMed, we employed appropriate search terms and filtered the results for the period of January 1, 1946, to June 28, 2023. Data were analyzed using CiteSpace, VOSviewer, and Microsoft Excel programs. The visual representations of the collected data through the use of figures was provided to demonstrate the aspects of IOL power calculation research.
RESULTS
We retrieved 5475 documents in the initial search. Analysis of these documents revealed an increase in the number of publications, from one publication in 1946 to 201 publications in 2023. The top three countries contributing to these publications were the United States, China, and Japan, collectively accounting for over 27% of the total articles. However, the two institutions with the highest contributions were located in the United Kingdom and Hungary, neither of which was among the top 10 countries in overall contributions. Overall 15 326 authors contributed to publications pertaining to IOL power calculation formulas. Among these authors, the most prolific contributors included Achim Langenbucher from Saarland University (Germany), Giacomo Savini from G.B. Bietti Foundation I.R.C.C.S. (Italy), and Kenneth J Hoffer from the University of California (United States). Saarland University emerged as the most productive institution, contributing equally to two distinct departments: the Dr. Rolf M. Schwiete Center for Limbal Stem Cell Research and Congenital Aniridia, as well as the Department of Experimental Ophthalmology. The School of Physical Science at the Open University in the United Kingdom engaged in partnership with various institutions including Eye & Laser Clinic Castrop Rauxel in Germany and Johannes Kepler University Linz in Austria. Among the top 10 keywords found in the publications were "cataract", "cataract surgery", and "intraocular lens".
CONCLUSIONS
This study represents the first scientometric analysis of publications related to IOL power calculation formulas. The study offers valuable insights into the geographic distribution, contributing authors, and emphasis of research on the IOL power calculation formulas. Further cooperation is essential to pinpoint the most suitable formula and to address gaps in our current understanding.
PubMed: 38476575
DOI: 10.51329/mehdiophthal1477 -
Cureus Feb 2024Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several...
Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several conditions such as albinism, aniridia, microphthalmos, congenital nystagmus, or other diseases. Genetic and non-genetic causes can play a role in foveal pit development. However, the exact mechanism that causes foveal pit absence has not been determined. This study reports a five-year-old boy who presented to the eye clinic with bilateral poor vision since birth. Optical coherence tomography (OCT) was performed and confirmed the absence of the foveal pit in both eyes. Diagnosis of foveal hypoplasia was made. The parents reported a positive family history of similar conditions, specifically, a paternal grandfather, a male paternal cousin, and a brother. To the best of our knowledge, this is the first reported case of foveal hypoplasia, with a positive family history in the male gender specifically. Thus, inheritance is presumed to be X-linked recessive. We acknowledge that further investigation by genetic testing would offer further insight into this case.
PubMed: 38465154
DOI: 10.7759/cureus.53891 -
Journal of Human Genetics Jun 2024Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and...
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.
Topics: Humans; Exome Sequencing; PAX6 Transcription Factor; Male; Female; Eye Abnormalities; Phenotype; Anterior Eye Segment; Mutation; Eye Diseases
PubMed: 38459225
DOI: 10.1038/s10038-024-01237-6 -
Cornea Mar 2024Contact lenses are US Food and Drug Administration-regulated medical devices that are a safe and effective method for the correction of refractive error. They are worn...
Contact lenses are US Food and Drug Administration-regulated medical devices that are a safe and effective method for the correction of refractive error. They are worn by an estimated 45 million Americans. Decorative contact lenses (DCLs) can be used for patients with medical conditions such as failed corneas or aniridia. However, DCLs have also gained popularity in the young, contact lens-naïve population. DCL users often buy lenses through unregulated sources without a clinical examination and education on proper use by an eye care professional. These lenses have a significantly higher risk of infection when compared with contact lenses for the correction of refractive error. To reduce the incidence of microbial keratitis, regulators and eye care professionals must make coordinated efforts to generate and disseminate prevention messages to all contact lens users. In addition, physician and patient reporting of contact lens-related complications to regulatory agencies enhances the pathway to risk reduction. This article reviews DCL use and supply, with a specific focus on the increased risk of contact lens-related complications in unsupervised DCL use.
PubMed: 38456820
DOI: 10.1097/ICO.0000000000003522 -
Current Eye Research Jun 2024During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal...
PURPOSE
During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using confocal laser scanning microscopy CLSM.
METHODS
31 eyes of 18 patients (55.6% males, mean age: 25.22 ± 16.35 years) with congenital aniridia and 46 eyes of 29 healthy subjects (41.4% males, mean age 30 ± 14.82 years) were examined using the Rostock Cornea Module of Heidelberg Retina Tomograph-III. At the subbasal nerve plexus, corneal nerve fiber density (CNFD), corneal nerve fiber length (CNFL), corneal total branch density (CTBD), and corneal nerve fiber width (CNFW) were analyzed using ACCMetrics software. Keratocyte density in the anterior, middle and posterior stroma was assessed manually.
RESULTS
The CNFD (2.02 ± 4.08 vs 13.99 ± 6.34/mm), CNFL (5.78 ± 2.68 vs 10.56 ± 2.82 mm/mm) and CTBD (15.08 ± 15.62 vs 27.44 ± 15.05/mm) were significantly lower in congenital aniridia subjects than in controls ( < 0.001 for all). CNFW was significantly higher in aniridia subjects than in controls (0.03 ± 0.004 vs 0.02 ± 0.003 mm/mm) ( 0.003). Keratocyte density was significantly lower in all stromal layers of aniridia subjects than in controls ( < 0.001 for all). Stromal alterations included confluent keratocytes, keratocytes with long extensions and hyperreflective dots between keratocytes in aniridia.
CONCLUSIONS
Decrease in CNFD, CNFL, and CTBD, as well as increase in CNFW well refer to the congenital aniridia-associated neuropathy. The decreased keratocyte density and the stromal alterations may be related to an increased cell death in congenital aniridia, nevertheless, stromal changes in different stages of AAK have to be further analyzed in detail.
Topics: Humans; Aniridia; Female; Male; Microscopy, Confocal; Adult; Corneal Stroma; Nerve Fibers; Young Adult; Adolescent; Middle Aged; Ophthalmic Nerve; Child
PubMed: 38444179
DOI: 10.1080/02713683.2024.2320779 -
Clinical Dysmorphology Apr 2024Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia,...
Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent. Sanger sequencing of PAX6 coding exons or exome sequencing was performed on genomic DNA from venous blood samples. Variants in PAX6 were identified in the four patients. Two variants are recurrent single-nucleotide substitutions - one is a substitution found in a patient with bilateral aniridia, whereas the other is a splice variant in a patient with nystagmus and neuroblastoma. The other two variants are novel and found in two patients with isolated aniridia. Both are small duplications that are predicted to lead to premature termination. For the recurrent variants, the comparison of phenotypes for patients with identical variants would shed light on the mechanisms of pathogenesis, and the discovery of two novel variants expands the spectrum of PAX6 mutations.
Topics: Humans; Face; Aniridia; Cataract; Exons; Asia, Southeastern; PAX6 Transcription Factor
PubMed: 38441200
DOI: 10.1097/MCD.0000000000000487 -
Journal of Clinical Medicine Feb 2024Boston Keratoprosthesis Type I (BI-KPro I) is a synthetic cornea that can be used to restore vision in patients with corneal blindness. This retrospective study...
Boston Keratoprosthesis Type I (BI-KPro I) is a synthetic cornea that can be used to restore vision in patients with corneal blindness. This retrospective study evaluated the outcomes of BI-KPro implantation in 118 patients. Material: The mean age of the patients was 56.76 ± 14.24 years. Indications for keratoprosthesis implantation were as follows: graft failure, 47 (39.83%); ocular burn, 38 (32.20%); neurotrophic keratopathy, 11 (9.32%), mucous membrane pemphigoid 9 (7.67%); autoimmune, 6 (5.08%); Stevens-Johnson syndrome, 4 (3.39%); and aniridia (2.54%). The surgeries were performed between March 2019 and June 2022 at a single clinical center in two locations. The postoperative visual acuity, complications, and need for additional surgical procedures were analyzed. The Best Corrected Visual Acuity before surgery was 0.01 ± 0.006. After one year (V1), it was 0.30 ± 0.27; at two years (V2), it was 0.27 ± 0.26; and at three years (V3), it was 0.21 ± 0.23. The percentage of patients with visual acuity better than 0.1 on the Snellen chart was 37.29% after 1 year, 49.35% after 2 years, and 46.81% after 3 years of follow up. The most common complications were glaucoma (78 patients; 66.1%), corneal melting (22 patients; 18.6%), and retroprosthetic membranes (20 patients; 17.0%). The BI-KPro can significantly improve visual acuity. The worst long-term results were obtained in the group of patients with autoimmune diseases; therefore, careful consideration should be given to implanting BI-KPro in this group. The high incidence of de novo glaucoma or the progression of pre-existing glaucoma suggests the need for careful monitoring.
PubMed: 38398288
DOI: 10.3390/jcm13040975 -
Eye (London, England) Jun 2024To evaluate the outcomes of trans-scleral sutured posterior chamber black diaphragm intraocular lens (BDIOL) (Morcher) implantations over 11 years.
BACKGROUND/OBJECTIVE
To evaluate the outcomes of trans-scleral sutured posterior chamber black diaphragm intraocular lens (BDIOL) (Morcher) implantations over 11 years.
SUBJECTS/METHODS
Retrospective case-series of patients, who underwent BDIOL implantation, identified from electronic patient records system from 2006 to 2016, Moorfields Eye Hospital. Demographics, pre/post-operative, final best-corrected visual acuity (BCVA), diagnosis, symptomatic improvement, intraoperative and postoperative complications immediate or late were collected and analysed to relate outcomes to surgical indication.
RESULTS
Forty eyes of 38 patients (F:M 1:2.8) underwent BDIOL implantation with a mean surgical age of 46.6 years and follow-up of 44.5 months (range of 8-132 months). Indications included 23(57%) ocular trauma, 7(17%) congenital aniridia, 7(17%) iatrogenic lens and/or iris loss, and 3(7%) infectious keratitis. Mean preoperative BCVA was 1.64 logMAR and mean final postoperative BCVA was 0.94 logMAR with an average improvement in BCVA of 0.23 logMAR, equivalent to 1.5 lines of Snellen visual acuity. Visual results varied according to indications. Infectious cause patients had the greatest vision improvement (-0.7 logMAR), followed by trauma (-0.3 logMAR), and 25% of these achieved vision of 0.3 logMAR (6/12 in Snellen acuity) or better. Conversely, the aniridia group had the least improvement (worsened vision of 0.01 logMAR), 17 patients (42%) reported subjective improvement.
CONCLUSION
BDIOLs achieve reasonably good visual outcomes in eyes with complex vision threatening pathology. No significant intra-operative complications are documented and most post-operative complications are related to the pre-existing pathology. Post - trauma and iatrogenic aniridia have better outcomes compared to congenital aniridia.
Topics: Humans; Middle Aged; Female; Retrospective Studies; Male; Visual Acuity; Lens Implantation, Intraocular; Sclera; Aged; Aniridia; Adult; Lenses, Intraocular; Suture Techniques; Adolescent; Young Adult; Postoperative Complications; Follow-Up Studies; Child; Eye Injuries; Aged, 80 and over; Treatment Outcome; Intraoperative Complications; Prosthesis Design
PubMed: 38388833
DOI: 10.1038/s41433-024-02982-w -
Acta Paediatrica (Oslo, Norway : 1992) Jun 2024This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome).
AIM
This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome).
METHODS
Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing.
RESULTS
Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software.
CONCLUSION
WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
Topics: Humans; Female; Twins, Monozygotic; WAGR Syndrome; Aniridia; Wilms Tumor; Infant; Corneal Opacity; Anterior Eye Segment; Eye Abnormalities; Diseases in Twins; Kidney Neoplasms
PubMed: 38363039
DOI: 10.1111/apa.17160 -
PloS One 2024To describe a novel corneal surgical technique combining Deep Anterior Lamellar Keratoplasty (DALK) with grafting of allogeneic limbus (Limbo-DALK) for the treatment of...
PURPOSE
To describe a novel corneal surgical technique combining Deep Anterior Lamellar Keratoplasty (DALK) with grafting of allogeneic limbus (Limbo-DALK) for the treatment of eyes with corneal stromal pathology and limbal stem cell deficiency (LSCD).
METHODS
Clinical records of six Limbo-DALKs performed in five patients diagnosed with LSCD and corneal stromal pathology requiring keratoplasty were retrospectively reviewed. All patients were diagnosed with LSCD due to various pathologies including thermal and chemical burns, congenital aniridia or chronic inflammatory ocular surface disease. Parameters analysed included demographics, diagnoses, clinical history, thickness measurements using anterior segment OCT, visual acuity, and epithelial status. Regular follow-up visits were scheduled at 6 weeks as well as 3, 6, 9, and 12 and 18 months postoperatively. Main outcome measures were time to graft epithelialisation and the occurrence of corneal endothelial decompensation.
RESULTS
Two grafts showed complete epithelial closure at 2 days, two at 14 days. In one eye, complete epithelial closure was not achieved after the first Limbo-DALK, but was achieved one month after the second Limbo-DALK. No endothelial decompensation occurred except in one patient with silicone oil associated keratopathy. Endothelial graft rejection was not observed in any of the grafts.
CONCLUSION
Based on the data from this pilot series, limbo-DALK appears to be a viable surgical approach for eyes with severe LSCD and corneal stromal pathology, suitable for emergency situations (e.g. corneal ulceration with impending corneal perforation), while minimising the risk of corneal endothelial decompensation.
Topics: Humans; Limbal Stem Cell Deficiency; Retrospective Studies; Corneal Diseases; Corneal Transplantation; Hematopoietic Stem Cell Transplantation; Keratoplasty, Penetrating; Treatment Outcome; Follow-Up Studies
PubMed: 38346049
DOI: 10.1371/journal.pone.0298241