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International Journal of Molecular... Jun 2024The microbiome of the ocular surface has been characterised, but only limited information is available on a possible silent intraocular microbial colonisation in normal...
The microbiome of the ocular surface has been characterised, but only limited information is available on a possible silent intraocular microbial colonisation in normal eyes. Therefore, we performed next-generation sequencing (NGS) of 16S rDNA genes in the aqueous humour. The aqueous humour was sampled from three patients during cataract surgery. Air swabs, conjunctival swabs from patients as well as from healthy donors served as controls. Following DNA extraction, the V3 and V4 hypervariable regions of the 16S rDNA gene were amplified and sequenced followed by denoising. The resulting Amplicon Sequence Variants were matched to a subset of the Ribosomal Database Project 16S database. The deduced bacterial community was then statistically analysed. The DNA content in all samples was low (0-1.49 ng/µL) but sufficient for analysis. The main phyla in the samples were (48%), (26%), (14%), (8%), and (2%). Patients' conjunctival control samples and anterior chamber fluid showed similar patterns of bacterial species containing many waterborne species. Non-disinfected samples showed a different bacterial spectrum than the air swab samples. The data confirm the existence of an ocular surface microbiome. Meanwhile, a distinct intraocular microbiome was not discernible from the background, suggesting the absence of an intraocular microbiome in normal eyes.
Topics: Humans; Aqueous Humor; Microbiota; High-Throughput Nucleotide Sequencing; RNA, Ribosomal, 16S; Bacteria; DNA, Bacterial; Male; Female; Aged; Middle Aged; Sequence Analysis, DNA
PubMed: 38892316
DOI: 10.3390/ijms25116128 -
International Journal of Molecular... May 2024Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical heterogeneity and delayed appearance of typical disease symptoms significantly prolonged the patients' diagnostic process. Therefore, many clinical and genetic tests have been performed in the past. Here, we provide detailed clinical and genetic analysis results of the patients. Whole-exome sequencing (WES) and targeted NGS analysis allow the identification of four novel and two previously reported variants in the following genes: , , and The use of next-generation sequencing (NGS) methods finally allowed for confirmation of the clinical diagnosis. Ultra-rare diseases such as PHARC, PCARP, and Oliver-McFarlane syndromes were diagnosed in patients, respectively. Our findings confirmed the importance of the application of next-generation sequencing methods, especially in ultra-rare genetic disorders with overlapping features.
Topics: Humans; Retinitis Pigmentosa; Male; Female; Exome Sequencing; Pedigree; High-Throughput Nucleotide Sequencing; Adult; Cerebellar Ataxia; Membrane Transport Proteins; Monoacylglycerol Lipases; Mutation; Ataxia; Phenotype; Acyltransferases; Cataract; Phospholipases; Polyneuropathies
PubMed: 38891946
DOI: 10.3390/ijms25115759 -
Ceska a Slovenska Oftalmologie :... 2024The aim of the thesis is to present the case of a patient in whom bilateral calcification of the hydrophilic intraocular lens (IOL) Lentis M+ LS-313 MF30 (Oculentis)...
The aim of the thesis is to present the case of a patient in whom bilateral calcification of the hydrophilic intraocular lens (IOL) Lentis M+ LS-313 MF30 (Oculentis) has developed. Due to the negative effect on visual functions, explantation and replacement of the artificial lens was necessary in both eyes. Case Report: An overview of the available literature summarized the diagnostics, current examination methods and possibilities of the surgical solution of calcification of the bifocal hydrophilic lens Lentis M+ LS-313 MF30 (Oculentis). The specific solution is described in a case report of a patient in whom calcification of both lenses developed 6 years after implantation of the IOL. In 2015, the patient underwent uncomplicated cataract surgery of both eyes with the implantation of an artificial intraocular lens into the capsule. In September 2021, an 82-year-old man was examined at our outpatient clinic for deterioration of visual acuity and changes in the material of the artificial IOL which were perceptible during a clinical examination, on the recommendation of a local ophthalmologist. Blurred vision predominated. A diagnosis of intraocular lens opacification was confirmed and documented using a Scheimpflug camera (OCULUS Pentacam HR) and anterior OCT (Avanti RTVue XR Optovue,). The patient was indicated for explantation and replacement of the opacified intraocular lens in the left and subsequently in the right eye- The same type of IOL was used for reimplantation with good functional results. Conclusion: Since 2010, multifocal lens implantation has been on an upward trend worldwide. This type of MF IOL has also been used in thousands of implantations. A number of other explantations can be expected in the coming years. The optimal solution is the correct replacement of the calcified IOL with the same construction made of safer hydrophobic material.
Topics: Humans; Male; Radiosurgery; Melanoma; Aged, 80 and over; Calcinosis; Choroid Neoplasms; Lenses, Intraocular; Radiation Injuries; Uveal Neoplasms; Lens Implantation, Intraocular
PubMed: 38886109
DOI: 10.31348/2024/22 -
Cureus May 2024Alstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old...
Alstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old female who presented with elevated creatinine. Her past medical history was significant for hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart problems. She had genetic testing done that revealed that she was homozygous for the ALMS1 gene and was diagnosed with Alstrom syndrome. She was followed by nephrology in the clinic and had chronic kidney disease (CKD) stage V. The patient traveled to Italy and was lost to follow-up.
PubMed: 38883129
DOI: 10.7759/cureus.60334 -
Cureus May 2024Background Cataract is a condition that affects the lens, causing separation and/or aggregation of proteins and disrupting the regular alignment of cell fibers....
Background Cataract is a condition that affects the lens, causing separation and/or aggregation of proteins and disrupting the regular alignment of cell fibers. Cataracts have many known risk factors contributing to their development, such as diabetes, oral steroid therapy, smoking, and high body mass index. Good knowledge about cataracts may improve the quality of treatment through early diagnosis. Unfortunately, poor knowledge is still a significant barrier to reducing blindness caused by cataracts in developing countries. Methodology This cross-sectional study was conducted using a pre-validated questionnaire and online questionnaires. Participants were approached through multiple social media platforms from June 2022 to August 2022. Results Of the 307 participants, with a mean age of 32.4 ± 12.8 years, 51.5% had good knowledge of cataracts and their related risk factors, while 28.7% had a favorable attitude about cataracts. Of all participants, 50.5% reported a diagnosis of cataract. The majority of participants, 58.6%, who did not have cataracts, had good knowledge versus 44.5% of others with (p = 0.014). Moreover, 75% of participants aged 50 years or older had good overall cataract knowledge levels compared to 38.9% of others aged 30-39 years (p = 0.002). Conclusions Cataracts are a preventable cause of blindness that can be corrected by surgery. In this study, we discovered extremely concerning rates of knowledge, awareness, and attitudes regarding cataracts among the populations of Hail City. More educational programs should be directed toward spreading knowledge about cataracts to patients and the public.
PubMed: 38882987
DOI: 10.7759/cureus.60444 -
Heliyon Jun 2024Shear wave elastography (SWE) is a novel imaging technique that provides quantitative assessments of tissue stiffness. This non-invasive method offers real-time,...
BACKGROUND
Shear wave elastography (SWE) is a novel imaging technique that provides quantitative assessments of tissue stiffness. This non-invasive method offers real-time, quantitative measurements and has been widely applied to various tissues, providing valuable diagnostic insights.
PURPOSE
This study aimed to investigate the feasibility of using SWE to evaluate the stiffness of the lens in patients with age-related cataracts.
MATERIALS AND METHODS
A comparative analysis involving 92 patients diagnosed with age-related cataracts and 39 healthy controls was conducted. Lens stiffness was quantified using SWE measurements. The lens nucleus of all participants was graded based on the Lens Opacities Classification System II (LOCS II). Correlations between the stiffness of the lens and age were also analyzed.
RESULTS
The study indicates that both the stiffness of the lens and the lens nucleus were significantly higher in patients with age-related cataracts compared to healthy controls ( < 0.001). In patients with age-related cataracts, although lens nucleus stiffness variations across different grades of cataract severity were not statistically significant, all grades displayed increased stiffness relative to healthy controls. Additionally, a significant positive correlation between lens stiffness and age was observed in all participants ( < 0.001).
CONCLUSION
SWE appears to be a promising imaging technique for quantitatively assessing the mechanical characteristics of the lens in patients with age-related cataracts.
PubMed: 38882265
DOI: 10.1016/j.heliyon.2024.e32255 -
The Pan African Medical Journal 2024
Topics: Humans; Cataract; Male; Eye Injuries; Time Factors; Middle Aged; Cataract Extraction
PubMed: 38881764
DOI: 10.11604/pamj.2024.47.140.42928 -
Ophthalmology Science 2024Knowing the surgical safety of anterior chamber liquid biopsies will support the increased use of proteomics and other molecular analyses to better understand disease...
PURPOSE
Knowing the surgical safety of anterior chamber liquid biopsies will support the increased use of proteomics and other molecular analyses to better understand disease mechanisms and therapeutic responses in patients and clinical trials. Manual review of operative notes from different surgeons and procedures in electronic health records (EHRs) is cumbersome, but free-text software tools could facilitate efficient searches.
DESIGN
Retrospective case series.
PARTICIPANTS
A total of 1418 aqueous humor liquid biopsies from patients undergoing intraocular surgery.
METHODS
Free-text EHR searches were performed using the Stanford Research Repository cohort discovery tool to identify complications associated with anterior chamber paracentesis and subsequent endophthalmitis. Complications of the surgery unrelated to the biopsy were not reviewed.
MAIN OUTCOME MEASURES
Biopsy-associated intraoperative complications and endophthalmitis.
RESULTS
A total of 1418 aqueous humor liquid biopsies were performed by 17 experienced surgeons. EHR free-text searches were 100% error-free for surgical complications, >99% for endophthalmitis (<1% false positive), and >93.6% for anesthesia type, requiring manual review for only a limited number of cases. More than 85% of cases were performed under local anesthesia without ocular muscle akinesia. Although the most common indication was cataract (50.1%), other diagnoses included glaucoma, diabetic retinopathy, uveitis, age-related macular degeneration, endophthalmitis, retinitis pigmentosa, and uveal melanoma. A 50- to 100-μL sample was collected in all cases using either a 30-gauge needle or a blunt cannula via a paracentesis. The median follow-up was >7 months. There was only one minor complication (0.07%) identified: a case of a small tear in Descemet membrane without long-term sequelae. No other complications occurred, including other corneal injuries, lens or iris trauma, hyphema, or suprachoroidal hemorrhage. There was no case of postoperative endophthalmitis.
CONCLUSIONS
Anterior chamber liquid biopsy during intraocular surgery is a safe procedure and may be considered for large-scale collection of aqueous humor samples for molecular analyses. Free-text EHR searches are an efficient approach to reviewing intraoperative procedures.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38881613
DOI: 10.1016/j.xops.2024.100517 -
Ophthalmology Science 2024The objective of this study was to develop a rapid and accurate clustered regularly interspaced short palindromic repeats (CRISPR)/Cas12a-based molecular diagnostic...
OBJECTIVE
The objective of this study was to develop a rapid and accurate clustered regularly interspaced short palindromic repeats (CRISPR)/Cas12a-based molecular diagnostic assay (Rapid Identification of Mycoses using CRISPR, RID-MyC assay) to detect fungal nucleic acids and to compare it with existing conventional mycologic methods for the diagnosis of fungal keratitis (FK).
DESIGN
This study was structured as a development and validation study focusing on the creation and assessment of the RID-MyC assay as a novel diagnostic modality for FK.
SUBJECTS
Participants comprised 142 individuals presenting with suspected microbial keratitis at 3 tertiary care institutions in South India.
METHODS
The RID-MyC assay utilized recombinase polymerase amplification targeting the 18S ribosomal RNA gene for isothermal amplification, followed by a CRISPR/Cas12a reaction. This was benchmarked against microscopy, culture, and polymerase chain reaction for the diagnosis of FK.
MAIN OUTCOME MEASURES
The primary outcome measures focused on the analytical sensitivity and specificity of the RID-MyC assay in detecting fungal nucleic acids. Secondary outcomes measured the assay's diagnostic sensitivity and specificity for FK, including its concordance with conventional diagnostic methods.
RESULTS
The RID-MyC assay exhibited a detection limit ranging from 13.3 to 16.6 genomic copies across 4 common fungal species. In patients with microbial keratitis, the RID-MyC assay showed substantial agreement with microscopy (kappa = 0.714) and fair agreement with culture (kappa = 0.399). The assay demonstrated a sensitivity of 93.27% (95% confidence interval [CI], 86.62%-97.25%) and a specificity of 89.47% (95% CI, 66.86%-98.70%) for FK diagnosis, with a median diagnostic time of 50 minutes (range, 35-124 minutes).
CONCLUSIONS
The RID-MyC assay, utilizing CRISPR-Cas12a technology, offers high diagnostic accuracy for FK. Its potential for point-of-care use could expedite and enhance the precision of fungal diagnostics, presenting a promising solution to current diagnostic challenges.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38881611
DOI: 10.1016/j.xops.2024.100522 -
BMC Ophthalmology Jun 2024Congenital microcoria has been extensively reported and usually leads to visual dysfunction or blindness. However, micropupil development secondary to cataract surgery...
BACKGROUND
Congenital microcoria has been extensively reported and usually leads to visual dysfunction or blindness. However, micropupil development secondary to cataract surgery has never been reported. Here, we describe a rare case of micropupil development in infancy that occurred secondary to combined cataract extraction and intraocular lens implantation for treatment of congenital cataract. When the patient reached adulthood, the affected eye not only gained good vision but also showed better ocular development and refractive status than the fellow eye.
CASE PRESENTATION
A 17-year-old boy presented to our outpatient clinic with decreased vision in his left eye related to congenital cataract surgery at 6 months of age. The affected eye had exhibited a pinhole pupil since the third month postoperatively. The condition had been managed with observation and regular monocular occlusion treatment. Upon presentation to our clinic, the best-corrected visual acuity (BCVA) in his fellow eye was 0.0 logMAR(20/20) with a refraction of - 5.75 diopters cylinder/-2.25 diopters sphere, and the BCVA in his affected eye was 0.5 logMAR(20/40) with a refraction of 0.00 diopters. Ophthalmic examination of the affected eye revealed a pinhole pupil (approximately 0.5 mm) with high light reflex sensitivity but no response to pupil-dilating drugs. The patient underwent pupilloplasty of the affected eye under corneal surface anesthesia. Postoperative examination revealed better ocular development in the affected eye than in the fellow eye (axial length: 24.21 vs. 27.02 mm, respectively) as well as better refractive status in the affected eye (BCVA of 0.0 logMAR(20/20) with a refraction of - 2.23 diopters cylinder/-3.00 diopters sphere vs. 0logMAR(20/20) with a refraction of -5.75 diopters cylinder/-2.25 diopters sphere).
CONCLUSIONS
We have reported a rare case of micropupil development secondary to congenital cataract surgery, which is an uncommon complication, especially in children. However, unlike congenital microcoria, the secondary pinhole pupil may have reduced imaging haze and halos, possibly favoring the development of the affected eye. This case provides further insight into the treatment of congenital cataract.
Topics: Humans; Male; Adolescent; Cataract; Cataract Extraction; Visual Acuity; Lens Implantation, Intraocular; Postoperative Complications
PubMed: 38877448
DOI: 10.1186/s12886-024-03507-5