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Bioengineering (Basel, Switzerland) Nov 2023There are currently limited treatment options for aniridia. In this context, 3D printed iris implants may provide a cost-effective, cosmetically acceptable alternative...
PURPOSE
There are currently limited treatment options for aniridia. In this context, 3D printed iris implants may provide a cost-effective, cosmetically acceptable alternative for patients with aniridia. The purpose of this study was to develop a proof-of-concept workflow for manufacturing 3D printed iris implants using a silicone ink palette that aesthetically matches iris shades, identified in slit lamp images.
METHODS
Slit lamp iris photos from 11 healthy volunteers (3 green; 4 blue; 4 brown) were processed using k-means binning analyses to identify two or three prominent colors each. Candidate silicone inks were created by precisely combining pigments. A crowdsourcing survey software was used to determine color matches between the silicone ink swatches and three prominent iris color swatches in 2 qualifying and 11 experimental workflows.
RESULTS
In total, 54 candidate silicone inks (20 brown; 16 green; 18 blue) were developed and analyzed. Survey answers from 29 individuals that had passed the qualifying workflow were invited to identify "best matches" between the prominent iris colors and the silicone inks. From this color-match data, brown, blue, and green prototype artificial irises were printed with the silicone ink that aesthetically matched the three prominent colors. The iris was printed using a simplified three-layer five-branch starburst design at scale (12.8 mm base disc, with 3.5 mm pupil).
CONCLUSIONS
This proof-of-concept workflow produced color-matched silicone prosthetic irises at scale from a panel of silicone inks using prominent iris colors extracted from slit lamp images. Future work will include printing a more intricate iris crypt design and testing for biocompatibility.
PubMed: 38002411
DOI: 10.3390/bioengineering10111287 -
International Journal of Molecular... Oct 2023This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact...
This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient's phenotype. The investigation involved comprehensive pediatric and ophthalmological examinations alongside karyotyping and Sanger sequencing of the gene. The patient exhibited distinctive features associated with both congenital aniridia and Down syndrome, suggesting a potential exacerbation of their effects. Cytogenetic and molecular genetic analysis revealed the presence of trisomy 21 and a known pathogenic nonsense variant in exon 6 of the gene (c.282C>A, p.(Cys94*)) corresponding to the paired domain of the protein. The observation of these two hereditary anomalies offers valuable insights into the molecular pathogenetic mechanisms underlying each condition. Additionally, it provides a basis for a more nuanced prognosis of the complex disease course in this patient. This case underscores the importance of considering interactions between different genetic disorders in clinical assessments and treatment planning.
Topics: Female; Humans; Child; Down Syndrome; PAX6 Transcription Factor; Chromosomes, Human, Pair 21; Trisomy; Aniridia; Eye Proteins; Homeodomain Proteins; Pedigree; Mutation
PubMed: 37958513
DOI: 10.3390/ijms242115527 -
Journal of Clinical Medicine Aug 2023Monoclonal gammopathy (MG) is characterized by monoclonal protein overproduction, potentially leading to the development of hyperviscosity syndrome.
BACKGROUND
Monoclonal gammopathy (MG) is characterized by monoclonal protein overproduction, potentially leading to the development of hyperviscosity syndrome.
OBJECTIVE
To assess retinal circulation using optical coherence tomography angiography (OCTA) parameters in patients with monoclonal gammopathy.
METHODS
OCTA measurements were performed using the Optovue AngioVue system by examining 44 eyes of 27 patients with MG and 62 eyes of 36 control subjects. Superficial and deep retinal capillary vessel density (VD SVP and DVP) in the whole 3 × 3 mm macular and parafoveal area, foveal avascular zone (FAZ) area, and central retinal thickness (CRT) were measured using the AngioAnalytics software. The OCTA parameters were evaluated in both groups using a multivariate regression model, after controlling for the effect of imaging quality (SQ).
RESULTS
There was no significant difference in age between the subjects with monoclonal gammopathy and the controls (63.59 ± 9.33 vs. 58.01 ± 11.46 years; > 0.05). Taking into account the effect of image quality, the VD SVP was significantly lower in the MG group compared to the control group (44.54 ± 3.22% vs. 46.62 ± 2.84%; < 0.05). No significant differences were found between the two groups regarding the other OCTA parameters ( > 0.05).
CONCLUSIONS
A decreased superficial retinal capillary vessel density measured using OCTA in patients with MG suggests a slow blood flow, reduced capillary circulation, and consequent tissue hypoperfusion. An evaluation of retinal circulation using OCTA in cases of monoclonal gammopathy may be a sensitive method for the non-invasive detection and follow-up of early microcirculatory dysfunction caused by increased viscosity.
PubMed: 37629268
DOI: 10.3390/jcm12165227 -
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 -
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 -
International Medical Case Reports... 2023Anterior Segment Dysgenesis (ASD) represents a spectrum of rare, congenital disorders that pose significant challenges to ophthalmological management due to their...
Anterior Segment Dysgenesis (ASD) represents a spectrum of rare, congenital disorders that pose significant challenges to ophthalmological management due to their complex and heterogeneous nature. The management of ASD becomes particularly complex when associated with other serious ocular conditions. This report discusses the case of a 4-year-old girl diagnosed with ASD exhibiting a combination of sclerocornea, aphakia, aniridia, and secondary glaucoma. Owing to the complexity of such condition, a multi-disciplinary approach is required. Despite successful initial surgical interventions on the left eye, eye was lost due to subsequent endophthalmitis and retinal detachment, resulting in a decision to adopt a conservative, non-surgical approach for the right eye. Although a series of therapeutic interventions have been performed, the final visual outcome was poor, demonstrating the complexity and seriousness of such cases. This case serves as a reminder of the need for regular follow-up, prompt recognition, and management of potential complications. Further research is necessary to optimize the outcomes in patients with similar presentations.
PubMed: 37753202
DOI: 10.2147/IMCRJ.S419685 -
BMC Ophthalmology Jan 2024The structural features have an impact on the surgical prognosis for congenital corneal opacity (CCO). The structural classification system of CCO, however, is lacking.... (Observational Study)
Observational Study
Classifications of anterior segment structure of congenital corneal opacity in infants and toddlers by ultrasound biomicroscopy and slit-lamp microscopic photographs: an observational study.
BACKGROUND
The structural features have an impact on the surgical prognosis for congenital corneal opacity (CCO). The structural classification system of CCO, however, is lacking. Based on data from ultrasound biomicroscopy (UBM) findings in infants and toddlers with CCO, this research proposed a classification system for the anterior segment structure severity.
METHODS
Medical records, preoperative UBM images and slit-lamp photographs of infants and toddlers diagnosed with CCO at University Third Hospital between December 2018 and June 2022 were reviewed. According to the anterior segment structural features observed in UBM images, eyes were classified as follows: U1, opaque cornea only; U2, central anterior synechia; U3, peripheral anterior synechia combined with angle closure; and U4, aniridia or lens anomaly. The opacity appearance and corneal vascularization density observed in slit-lamp photographs were assigned grades according to previous studies. The extent of vascularization was also recorded. The corresponding intraocular anomaly classifications and ocular surface lesion severity were analysed.
RESULTS
Among 81 eyes (65 patients), 41 (50.6%) were right eyes, and 40 (49.4%) were left eyes. The median age at examination was 6.91 months (n = 81, 1.00, 34.00). Two (2.5%) of the 81 eyes were classified as U1, 20 (24.7%) as U2, 22 (27.2%) as U3a, 11 (13.6%) as U3b and 26 (32.1%) as U4. Bilateral CCO eyes had more severe UBM classifications (P = 0.019), more severe dysgenesis (P = 0.012) and a larger angle closure (P = 0.009). Eyes with more severe UBM classifications had higher opacity grades (P = 0.003) and vascularization grades (P = 0.014) and a larger vascularization extent (P = 0.001). Eyes with dysgenesis had higher haze grades (P = 0.012) and more severe vascularization (P = 0.003 for density; P = 0.008 for extent), while the angle closure range was related to haze grade (P = 0.013) and vascularization extent (P = 0.003).
CONCLUSIONS
This classification method based on UBM and slit-lamp photography findings in the eyes of CCO infants and toddlers can truly reflect the degree of abnormality of the ocular surface and anterior segment and is correlated with the severity of ocular surface anomalies. This method might provide meaningful guidance for surgical procedure design and prognostic determinations for keratoplasty in CCO eyes.
Topics: Infant; Humans; Child, Preschool; Microscopy, Acoustic; Eye Abnormalities; Slit Lamp Microscopy; Corneal Diseases; Neovascularization, Pathologic; Cornea; Iris Diseases; Corneal Opacity
PubMed: 38263030
DOI: 10.1186/s12886-024-03286-z -
PloS One 2024The purpose of this study was to investigate the repeatability of biometric measures and also to assess the interactions between the uncertainties in these measures for...
PURPOSE
The purpose of this study was to investigate the repeatability of biometric measures and also to assess the interactions between the uncertainties in these measures for use in an error propagation model, using data from a large patient cohort.
METHODS
In this cross-sectional non-randomised study we evaluated a dataset containing 3379 IOLMaster 700 biometric measurements taken prior to cataract surgery. Only complete scans with at least 3 successful measurements for each eye performed on the same day were considered. The mean (Mean) and standard deviations (SD) for each sequence of measurements were derived and analysed. Correlations between the uncertainties were assessed using Spearman rank correlations.
RESULTS
In the dataset with 677 eyes matching the inclusion criteria, the within subject standard deviation and repeatability for all parameters match previously published data. The SD of the axial length (AL) increased with the Mean AL, but there was no noticeable dependency of the SD of any of the other parameters on their corresponding Mean value. The SDs of the parameters are not independent of one another, and in particular we observe correlations between those for AL, anterior chamber depth, aqueous depth, lens thickness and corneal thickness.
CONCLUSIONS
The SD change over Mean for AL measurement and the correlations between the uncertainties of several biometric parameters mean that a simple Gaussian error propagation model cannot be used to derive the effect of biometric uncertainties on the predicted intraocular lens power and refraction after cataract surgery.
Topics: Humans; Lenses, Intraocular; Cross-Sectional Studies; Axial Length, Eye; Prospective Studies; Biometry; Cataract; Anterior Chamber
PubMed: 38330090
DOI: 10.1371/journal.pone.0297869 -
International Journal of Ophthalmology 2023
PubMed: 37724271
DOI: 10.18240/ijo.2023.09.26 -
BMC Ophthalmology Aug 2023According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes....
BACKGROUND
According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree.
METHODS
Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic biomicroscopy, optical coherence tomography, wide-field fundus imaging, and visual field test were performed to evaluate the clinical manifestations. Whole-exome sequencing (WES) and bioinformatics analysis were conducted in eight members from this pedigree to identify the causative mutation.
RESULTS
WES revealed a novel heterozygous substitution of PAX6 (NM_000280.5:c.157G > A, p.(Val53Met) (chr11:31823309 C > T, hg19)), which cosegregated with the phenotype of this pedigree. All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis (ASD) including microcornea, sclerocornea, obvious symmetrical corectopia, iris stromal dysplasia, goniodysgenesis, and abnormal distribution of fundus blood vessels. The girl of the fraternal twins also demonstrated bilateral temporal deviation of lenses and abnormal tissue membrane connecting anterior chamber angle and lens anterior capsule in the right eye. The mother additionally showed apparent cataract bilaterally and cupping of the optic disc in her left eye.
CONCLUSION
A novel missense variant in PAX6 gene was detected in a Chinese pedigree demonstrating bilateral FH and ASD. It is really distinctive that the ASD involves almost all parts of the anterior segment, and bilateral symmetrical corectopia is the most perceptible sign. This study expands the phenotypic and genotypic spectrum of PAX6-associated ocular diseases, and facilitates the understanding of the crucial role that PAX6 plays in the development of the eye. Meanwhile, PAX6 could be considered as a candidate pathogenic gene of bilateral symmetrical corectopia.
Topics: Female; Humans; PAX6 Transcription Factor; Homeodomain Proteins; Genotype; Phenotype; Mutation; Pedigree; Eye Proteins; Aniridia
PubMed: 37553561
DOI: 10.1186/s12886-023-03054-5