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Medicina (Kaunas, Lithuania) May 2024Different techniques for artificial iris implantation with or without an intraocular lens, depending on lens status, are described in the literature. We describe a...
Different techniques for artificial iris implantation with or without an intraocular lens, depending on lens status, are described in the literature. We describe a surgical technique for a custom-made artificial iris and toric-intraocular lens intrascleral flange fixation. We modified the "Backpack" artificial iris implantation surgical technique to facilitate an accurate alignment of the toric-intraocular lens in a patient with aphakia, aniridia, and high asymmetric astigmatism secondary to blunt trauma. Two months after the surgery, uncorrected visual acuity was 20/30, corrected to 20/25 with a refraction of -2.00 in the diopter sphere with no residual astigmatism. The artificial iris implant and toric-intraocular lens were well-centered. The patient was satisfied with the visual and cosmetic outcomes. This procedure, however, is not complication-free as our patient developed uveitis and increased intraocular pressure during the postoperative period, which was treated successfully.
Topics: Humans; Iris; Lenses, Intraocular; Sclera; Lens Implantation, Intraocular; Visual Acuity; Astigmatism; Male; Aniridia; Female
PubMed: 38929482
DOI: 10.3390/medicina60060865 -
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 -
European Journal of Human Genetics :... Jun 2024The PAX6 gene encodes a highly-conserved transcription factor involved in eye development. Heterozygous loss-of-function variants in PAX6 can cause a range of ophthalmic...
The PAX6 gene encodes a highly-conserved transcription factor involved in eye development. Heterozygous loss-of-function variants in PAX6 can cause a range of ophthalmic disorders including aniridia. A key molecular diagnostic challenge is that many PAX6 missense changes are presently classified as variants of uncertain significance. While computational tools can be used to assess the effect of genetic alterations, the accuracy of their predictions varies. Here, we evaluated and optimised the performance of computational prediction tools in relation to PAX6 missense variants. Through inspection of publicly available resources (including HGMD, ClinVar, LOVD and gnomAD), we identified 241 PAX6 missense variants that were used for model training and evaluation. The performance of ten commonly used computational tools was assessed and a threshold optimization approach was utilized to determine optimal cut-off values. Validation studies were subsequently undertaken using PAX6 variants from a local database. AlphaMissense, SIFT4G and REVEL emerged as the best-performing predictors; the optimized thresholds of these tools were 0.967, 0.025, and 0.772, respectively. Combining the prediction from these top-three tools resulted in lower performance compared to using AlphaMissense alone. Tailoring the use of computational tools by employing optimized thresholds specific to PAX6 can enhance algorithmic performance. Our findings have implications for PAX6 variant interpretation in clinical settings.
PubMed: 38849599
DOI: 10.1038/s41431-024-01638-3 -
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 -
Clinical & Experimental Ophthalmology May 2024To compare results from different corneal astigmatism measurement instruments; to reconstruct corneal astigmatism from the postimplantation spectacle refraction and...
BACKGROUND
To compare results from different corneal astigmatism measurement instruments; to reconstruct corneal astigmatism from the postimplantation spectacle refraction and toric intraocular lens (IOL) power; and to derive models for mapping measured corneal astigmatism to reconstructed corneal astigmatism.
METHODS
Retrospective single centre study involving 150 eyes treated with a toric IOL (Alcon SN6AT, DFT or TFNT). Measurements included IOLMaster 700 keratometry (IOLMK) and total keratometry (IOLMTK), Pentacam keratometry (PK) and total corneal refractive power in 3 and 4 mm zones (PTCRP3 and PTCRP4), and Aladdin keratometry (AK). Regression-based models mapping the measured C0 and C45 components (Alpin's method) to reconstructed corneal astigmatism were derived.
RESULTS
Mean C0 components were 0.50/0.59/0.51 dioptres (D) for IOLMK/PK/AK; 0.2/0.26/0.31 D for IOLMTK/PTCRP3/PTCRP4; and 0.26 D for reconstructed corneal astigmatism. All corresponding C45 components ranged around 0. The prediction models had main diagonal elements lower than 1 with some crosstalk between C0 and C45 (nonzero off-diagonal elements). Root-mean-squared residuals were 0.44/0.45/0.48/0.51/0.50/0.47 D for IOLMK/IOLMTK/PK/PTCRP3/PTCRP4/AK.
CONCLUSIONS
Results from the different modalities are not consistent. On average IOLMTK/PTCRP3/PTCRP4 match reconstructed corneal astigmatism, whereas IOLMK/PK/AK show systematic C0 offsets of around 0.25 D. IOLMTK/PTCRP3/PTCRP4. Prediction models can reduce but not fully eliminate residual astigmatism after toric IOL implantation.
PubMed: 38741026
DOI: 10.1111/ceo.14387 -
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 -
Cornea May 2024To assess outcomes of Descemet stripping endothelial keratoplasty (DSEK) in eyes with custom artificial iris (CAI) implantation.
PURPOSE
To assess outcomes of Descemet stripping endothelial keratoplasty (DSEK) in eyes with custom artificial iris (CAI) implantation.
METHODS
This is a retrospective, interventional, consecutive, surgical case series of patients who underwent DSEK after CAI implantation between 2010 and 2021 at 2 referral centers. Primary safety measures were loss of corrected distance visual acuity (CDVA), increase in intraocular pressure (IOP), development or progression of glaucoma, and intraoperative and postoperative complications. Efficacy measures were graft survival at year 1 and improvement in cosmesis at postoperative month 3. In general, measures were compared between baseline and postoperative year 1 while any complication was reported for the full follow-up period.
RESULTS
Thirty-nine eyes of 39 patients were identified. 64.1% of eyes had acquired aniridia from trauma. The mean follow-up interval was 27.7 months (range 12.2-117.4). Median CDVA improved from logMAR 1.0 to 0.7 at year 1 (P = 0.0047). At the final follow-up, permanent loss of CDVA occurred in 25.6% of eyes, of which 90% was due to glaucoma. The most common postoperative complication was IOP elevation (66.7% of eyes). Graft survival at postoperative year 1 was 82.0% (95% confidence interval, 66.3-91.4). Secondary graft failure occurred in 28.2% of eyes at a mean duration of 39.7 months (SD 27.9 months) after DSEK. Cosmesis improved among 87.2% of eyes at postoperative month 3.
CONCLUSIONS
DSEK is an effective procedure for addressing corneal edema in eyes with a CAI, but a majority develop elevated IOP and graft survival is shorter than in eyes without a CAI.
PubMed: 38718485
DOI: 10.1097/ICO.0000000000003540 -
Acta Ophthalmologica Apr 2024To compare safety and efficacy of isolated and combined UV-light corneal crosslinking (CXL) and fine-needle diathermy (FND) to regress pathological corneal vessels...
PURPOSE
To compare safety and efficacy of isolated and combined UV-light corneal crosslinking (CXL) and fine-needle diathermy (FND) to regress pathological corneal vessels in vivo.
METHODS
Mice with inflamed and pathologically vascularized corneas received CXL or FND as monotherapy or a combination of both treatments. Corneal pathological blood and lymphatic vessels, immune cells and the morphology of anterior segment structures were evaluated.
RESULTS
All three approaches were able to regress blood and lymphatic vessels in mice. A comparative analysis of the three methods revealed that the FND monotherapy and the CXL + FND combination were significantly more effective than the CXL monotherapy, one and 2 weeks after therapy and especially in regressing lymphatic vessels. Furthermore, the combination therapy induced significantly less immune cell recruitment compared to the monotherapies. All three methods were safe to use in regards of corneal integrity.
CONCLUSIONS
A combination of FND and CXL led to regression of pathological corneal lymphatic and blood vessels and reduced the infiltration of immune cells into inflamed murine corneas. This approach offers a new effective, safe and clinically usable strategy to treat eyes with mature pathological blood vessels and even more so for lymphatic vessels, for example prior to high-risk corneal transplantation.
PubMed: 38687167
DOI: 10.1111/aos.16696