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Journal of Clinical Medicine May 2024: Aniridia-associated keratopathy (AAK) is a potentially vision-threatening pathology in congenital aniridia, for which both the underlying etiopathogenesis and...
: Aniridia-associated keratopathy (AAK) is a potentially vision-threatening pathology in congenital aniridia, for which both the underlying etiopathogenesis and effective treatment remain unclear. :This prospective study was conducted to assess and compare the short-term outcome after superficial keratectomy (SK) alone or in a combination with an amniotic membrane transplantation (AMT). Here, 76 eyes were enrolled in 76 patients with grade 4 AAK. In all eyes, in order to assess preoperatively the efficiency of the limbal epithelial stem cells (LESC), the presence of corneal epithelial cells in confocal microscopy was established. The analyses included: best corrected visual acuity (BCVA), the stage of AAK and the number of corneal quadrants involved in corneal neovascularization (CNV). : Six months after surgery, the mean BCVA was 0.05 and ranged from 0.002 up to 0.1 in both groups. Improvement in BCVA occurred in 94.29% patients when *SK alone* was performed, and in 92.68% when in combination with AMT. There were no statistically significant differences in the effect of therapy depending on the type of surgery, regarding BCVA, stage of AAK and the number of quadrants with CNV. : SK alone is an effective procedure in short outcomes limited to six months for advanced AAK in association with LESC partial efficiency.
PubMed: 38892970
DOI: 10.3390/jcm13113258 -
Molecular Systems Biology Jun 2024Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To...
Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause these phenotypes, we combined saturation mutagenesis of the paired domain of PAX6 with a yeast one-hybrid (Y1H) assay in which expression of a PAX6-GAL4 fusion gene drives antibiotic resistance. We quantified binding of more than 2700 single amino-acid variants to two DNA sequence elements. Mutations in DNA-facing residues of the N-terminal subdomain and linker region were most detrimental, as were mutations to prolines and to negatively charged residues. Many variants caused sequence-specific molecular gain-of-function effects, including variants in position 71 that increased binding to the LE9 enhancer but decreased binding to a SELEX-derived binding site. In the absence of antibiotic selection, variants that retained DNA binding slowed yeast growth, likely because such variants perturbed the yeast transcriptome. Benchmarking against known patient variants and applying ACMG/AMP guidelines to variant classification, we obtained supporting-to-moderate evidence that 977 variants are likely pathogenic and 1306 are likely benign. Our analysis shows that most pathogenic mutations in the paired domain of PAX6 can be explained simply by the effects of these mutations on PAX6:DNA association, and establishes Y1H as a generalisable assay for the interpretation of variant effects in transcription factors.
PubMed: 38849565
DOI: 10.1038/s44320-024-00043-8 -
Journal of Ophthalmology 2024Our study aimed to evaluate the indications and outcomes of intraocular lens (IOL) explantation surgeries in a tertiary eyecare center in Hungary.
PURPOSE
Our study aimed to evaluate the indications and outcomes of intraocular lens (IOL) explantation surgeries in a tertiary eyecare center in Hungary.
MATERIALS AND METHODS
This retrospective study included all IOL explantation surgeries performed between 2006 and 2020 at the Department of Ophthalmology of Semmelweis University, Budapest, Hungary. There were no exclusion criteria for this study. For each patient, the demographics, clinical history, preoperative status, indications for IOL explantation, and operative and postoperative details were reviewed. Primary outcomes included explantation indications and the type of secondary implanted IOL.
RESULTS
A total of 161 eyes from 153 patients were included (96 males; 62.7%); age at the time of the IOL explantation was 65.0 ± 17.4 years. The mean time between primary cataract surgery and IOL explantation was 8.5 ± 7.7 years. In total, 139 (86.3%) PCIOLs and 22 (13.7%) ACIOLs were explanted. The main indications for IOL explantation were dislocation ( = 133; 95.7%) and refractive cause ( = 2; 1.4%) in the PCIOL group. Among ACIOL explantations, the main reasons were pseudophakic bullous keratopathy ( = 14; 63.6%), dislocation ( = 4; 18.2%), and refractive cause ( = 2; 9.1%). In the PCIOL group, 115 (82.7%) primary IOLs were implanted in the capsular bag, 16 (11.5%) were sulcus fixated, and 8 (5.8%) were scleral fixated. The most frequent ocular comorbidities were previous vitrectomy ( = 50, 31.1%), previous ocular trauma ( = 45, 28.0%), glaucoma ( = 16, 9.9%), pseudoexfoliation syndrome ( = 15, 9.3%), and high axial myopia ( = 14, 8.7%). The most commonly used secondary IOL implant was the prepupillary iris-claw IOL ( = 115, 73.7%), followed by the retropupillary iris-claw IOL ( = 32, 20.5%). Uncorrected visual acuity (UCVA) was significantly better following IOL exchange in the entire sample (1.57 ± 0.61 (range: 2.40-0.05) vs. 0.77 ± 0.56 (range: 2.40-0.00); < 0.001). Best-corrected visual acuity (BCVA) was maintained or improved in 80.7% of cases after IOL explantation.
CONCLUSIONS
The most common indication for IOL explantation at a tertiary eyecare center in Hungary is IOL dislocation, followed by pseudophakic bullous keratopathy. Prepupillary and retropupillary iris-claw IOL are the most frequently used secondary implants and their use resulted in a significant UCVA improvement following IOL exchange.
PubMed: 38827421
DOI: 10.1155/2024/6653621 -
Pathogens (Basel, Switzerland) May 2024Emerging and re-emerging parasitic diseases can cause significant economic burdens at national and global levels. However, governments often underestimate or ignore...
Emerging and re-emerging parasitic diseases can cause significant economic burdens at national and global levels. However, governments often underestimate or ignore these diseases, especially in developed countries. This retrospective, case-oriented study analyzed parasitic diseases reported in Taiwan between 2001 and 2018. One hundred and thirty-two eligible clinical profiles of Taiwanese patients obtained from the NCBI, Scopus, Google Scholar, and Web of Science databases and local journals according to age, sex, source of infection, symptoms, risk factors, and geographical regions were analyzed. The analysis results showed that the number/frequency of cases caused by nematodes (46.97%) or protozoa (37.88%) was significantly higher than that of trematodes (9.85%) or cestodes (5.30%) ( < 0.0001). Northern Taiwan (46.97%) had a significantly higher rate than Southern Taiwan (33.33%), Central Taiwan (8.33%), and Eastern Taiwan (5.30%) ( < 0.05). The 15-65 age group (68.94%) had a significantly higher rate than the 65-90 age group (22.73%) and the 0-15 age group (8.33%) ( < 0.0001). Males (70.46%) had a significantly higher number/frequency of cases than females (29.54%) ( < 0.0001). People who acquired the infection through the food/soil route (32.58%) or who had a low immune status (32.58%) had a higher rate than travel-related infections (15.15%) ( < 0.001). The present study showed that emerging/reemerging parasitic infections continue to be of great concern to the lives and health of Taiwanese citizens and, if ignored, will threaten the health of the Taiwanese people; therefore, the delineation of preventive measures by health authorities is urgently warranted.
PubMed: 38787235
DOI: 10.3390/pathogens13050383 -
International Journal of Ophthalmology 2024To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members...
AIM
To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members with atypical aniridia.
METHODS
Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations. A combination of whole exome sequencing (WES) and direct Sanger sequencing were performed to uncover the causative mutation.
RESULTS
Among the 11 family members, 8 were clinically diagnosed with congenital aniridia (atypical aniridia phenotype). A rare heterozygous mutation c.622C>T (p.Arg208Trp) in exon 8 of was identified in all affected family members but not in the unaffected members or in healthy control subjects.
CONCLUSION
A rare missense mutation in the gene is found in members of a three-generation Chinese family with congenital atypical aniridia. This result contributes to an increase in the phenotypic spectrum caused by missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia, which may also contribute to genetic counselling and family planning.
PubMed: 38721508
DOI: 10.18240/ijo.2024.03.07 -
Diseases (Basel, Switzerland) Apr 2024Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various...
UNLABELLED
Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various anomalies, including keratopathy, cataract, glaucoma, and foveal and optic nerve hypoplasia. Additionally, nearly 50% of individuals with congenital aniridia experience symptoms of ocular dryness. Traditional treatment encompasses artificial tears and autologous serum. This study aimed to assess the effectiveness and safety of using platelet rich in growth factors (PRGF) plasma in patients with congenital aniridia and ocular dryness symptoms.
METHODS
The included patients underwent two cycles of a 3-month PRGF treatment. At 6 months, symptomatology was evaluated using the OSDI and SANDE questionnaires, and ocular surface parameters were analyzed.
RESULTS
The OSDI and SANDE values for frequency and severity demonstrated statistically significant improvements ( < 0.05). Ocular redness, corneal damage (corneal staining), and tear volume (Schirmer test) also exhibited statistically significant improvements ( < 0.05). No significant changes were observed in visual acuity or in the grade of meibomian gland loss.
CONCLUSION
The use of PRGF in patients with congenital aniridia and ocular dryness symptoms led to significant improvements in symptomatology, ocular redness, and ocular damage. No adverse effects were observed during the use of PRGF.
PubMed: 38667534
DOI: 10.3390/diseases12040076 -
PloS One 2024The purpose of this study was to investigate the effect of the corneal back surface by comparing the keratometric astigmatism (K, derived from the corneal front surface)...
PURPOSE
The purpose of this study was to investigate the effect of the corneal back surface by comparing the keratometric astigmatism (K, derived from the corneal front surface) of a modern optical biometer against astigmatism of Total Keratometry (TK, derived from both corneal surfaces) in a large population with cataractous eyes. The results were then used to define linear prediction models to map K to TK.
METHODS
From a large dataset containing bilateral biometric measurements (IOLMaster 700) in 9736 patients prior to cataract surgery, the total corneal astigmatism was decomposed into vectors for K, corneal back surface (BS), and TK. A multivariate prediction model (MV), simplified model with separation of vector components (SM) and a constant model (CM) were defined to map K to TK vector components.
RESULTS
The K centroid (X/Y) showed some astigmatism with-the-rule (0.1981/-0.0211 dioptre (dpt)) whereas the TK centroid was located around zero (-0.0071/-0.0381 dpt against-the-rule) and the BS centroid showed systematic astigmatism against-the-rule (-0.2367/-0.0145 dpt). The respective TK-K centroid was located at -0.2052/-0.0302 dpt. The MV model showed the same performance (i.e. mean absolute residuum) as the SM did (0.1098 and 0.1099 dpt respectively) while the CM performed only slightly worse (0.1121 dpt mean absolute residuum).
CONCLUSION
In cases where tomographic data are unavailable statistical models could be used to consider the overall contribution of the back surface to the total corneal astigmatism. Since the performance of the CM is sufficiently close to that of MV and SM we recommend using the CM which can be directly considered e.g. as surgically induced astigmatism.
Topics: Humans; Astigmatism; Biometry; Cornea; Cataract Extraction; Corneal Diseases
PubMed: 38640111
DOI: 10.1371/journal.pone.0300576 -
BMC Ophthalmology Apr 2024Aniridia is a rare eye disorder with a high incidence of glaucoma, and surgical intervention is often needed to control the intraocular pressure (IOP). Here, we reported... (Review)
Review
BACKGROUND
Aniridia is a rare eye disorder with a high incidence of glaucoma, and surgical intervention is often needed to control the intraocular pressure (IOP). Here, we reported a case of illuminated microcatheter-assisted circumferential trabeculotomy (MAT) performed on an aniridic glaucoma patient following a previous failed angle surgery. The surgical procedures for aniridic glaucoma were also reviewed.
CASE PRESENTATION
A 21-year-old man, diagnosed with aniridic glaucoma, came to our hospital consulting for the poor control of left eye's IOP despite receiving goniotomy surgery 3 years ago. The IOP was 26 mmHg with maximum topical antiglaucoma eyedrops. The central cornea was opaque and the majority of iris was absent. The gonioscopy and ultrasound biomicroscopy (UBM) demonstrated that 360° anterior chamber angle was closed. The whole exome sequencing of peripheral blood confirmed a 13.39 Mb copy number loss at chromosome 11p15.1p13, containing PAX6 and WT1 gene. The 360° MAT surgery was performed on his left eye. At 1-year follow-up, the IOP was 19mmHg with 2 kinds of topical antiglaucoma medications, and the postoperative UBM demonstrated the successful incision of the anterior chamber angle.
CONCLUSIONS
The case presented here exhibited a case of aniridic glaucoma treated by MAT surgery. The MAT surgery may be an effective option for IOP control in aniridic glaucoma patients following a previous failed angle surgery.
Topics: Humans; Male; Young Adult; Aniridia; Follow-Up Studies; Glaucoma; Gonioscopy; Intraocular Pressure; PAX6 Transcription Factor; Retrospective Studies; Trabeculectomy; Treatment Outcome
PubMed: 38594720
DOI: 10.1186/s12886-024-03425-6 -
Ophthalmology and Therapy May 2024This study analysed the causative factors and clinical characteristics of acute and chronic ocular sequelae of Stevens-Johnson syndrome and toxic epidermal necrolysis...
INTRODUCTION
This study analysed the causative factors and clinical characteristics of acute and chronic ocular sequelae of Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) treated at a large third-referral centre in a developed country (Hungary) over a 15-year period.
METHODS
This was a retrospective review of patients with acute and/or chronic SJS/TEN who were managed between 2006 and 2020 at the Department of Ophthalmology of Semmelweis University in Budapest, Hungary. For each subject, clinical data, including patient demographics, clinical history, causative agents of SJS/TEN, and conservative and surgical treatment details, were reviewed.
RESULTS
Ninety-six eyes of 48 patients were included (28 female; 58.3%); the age at disease onset was 32.1 ± 22.4 years. The most common causative factors were medicines (n = 36; 75.0%). Among these drugs, 29.2% were nonsteroidal anti-inflammatory drugs (NSAIDs) (n = 14), 20.8% were antibiotics (n = 10) and 14.6% were antiepileptic drugs (n = 7). In patients with chronic SJS/TEN, the most commonly found ocular sequelae were conjunctival hyperaemia in 45 (56.3%) eyes, symblepharon in 38 (47.5%) eyes, trichiasis/distichiasis in 37 (46.3%) eyes, corneal neovascularization in 31 (38.8%) eyes and corneal scarring in 29 (36.3%) eyes. In patients with chronic SJS/TEN, the most frequently used topical conservative treatment included antibiotics in 53 (66.3%) eyes, preservative-free artificial tears in 50 (62.5%) eyes and topical corticosteroids in 42 (52.5%) eyes of 40 patients. The most frequently performed ocular surgeries for managing chronic ocular sequelae in patients with SJS/TEN were epilation for trichiasis (n = 27; 33.8%), cataract surgery (n = 14; 17.5%), entropion surgery (n = 12; 15.0%), penetrating keratoplasty (PK) (n = 11; 13.8%) and amniotic membrane transplantation (n = 4; 5.0%).
CONCLUSION
Our results suggest that NSAIDs, antibiotics and antiepileptic drugs are the most common causative factors for SJS/TEN in Hungary. Like in other countries, in Hungary, the ocular management of patients with acute and chronic SJS/TEN is heterogeneous, and most cases do not follow modern therapeutic guidelines.
PubMed: 38507192
DOI: 10.1007/s40123-024-00924-z -
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