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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 -
BMC Ophthalmology Aug 2023Traumatic aniridia occurs when the iris is extruded from the eye and is often accompanied by lens injuries. However, traumatic aniridia due to dislocation of the iris...
BACKGROUND
Traumatic aniridia occurs when the iris is extruded from the eye and is often accompanied by lens injuries. However, traumatic aniridia due to dislocation of the iris into the vitreous cavity without lens damage has never been reported.
CASE PRESENTATION
A 30-year-old man presented with visual loss and pain for 6 h after a thin wire injured his right eyeball. Ophthalmologic examinations manifested a 2 mm full-thickness corneal laceration and total hyphema. An intact clear lens, healthy attached retina, and almost complete iris tissue in the vitreous cavity were found after resolution of hyphema the next day. Further examination revealed that the defect in the zonule below the corneal wound was the path for the iris to enter the vitreous cavity. The patient opted for nonsurgical treatment until pigment granules and opacity were observed in the vitreous cavity after 50 days. Vitrectomy was performed to remove the dislocated iris.
CONCLUSIONS
The presentation of this unique case indicates that the torn iris was displaced to the vitreous cavity with an intact lens and missing local zonula instead of out the corneal laceration after a penetrating injury. The type of injury, mechanism, and force on the spot may contribute to the occurrence of this rare condition. Instead of artificial irises, tinted glasses were more appropriate treatment option for this patient. Peripheral retinal examination was essential in the management of this case. In such cases, the iris in the vitreous cavity should be resected to prevent complications.
Topics: Male; Humans; Adult; Lacerations; Hyphema; Lens, Crystalline; Iris; Corneal Injuries
PubMed: 37605136
DOI: 10.1186/s12886-023-03105-x -
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 -
BMC Medical Genomics Aug 2023The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.
BACKGROUND
The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.
METHODS
One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general examinations were performed on the patient. DNA was extracted from the patient, and whole-exome sequencing was performed to identify the causative variant. The pathogenicity of the variant was predicted using in silico analysis and evaluated according to American College of Medical Genetics and Genomics guidelines. Relationships between genetic variants and clinical features were analyzed.
RESULTS
In addition to the classical aniridia phenotype showing complete iris aplasia, foveal hypoplasia, and ectopic lentis, the patient also exhibited spontaneous reattachment rhegmatogenous retinal detachment (SRRRD). Whole-exome sequencing identified a novel heterozygous variant, exon8:c.640_646del:p.R214Pfs*28.
CONCLUSIONS
The present study broadens the range of genetic variants described in aniridia and presents an aniridia patient with SRRRD.
Topics: Humans; Aniridia; East Asian People; Genotype; Homeodomain Proteins; Mutation; PAX6 Transcription Factor; Pedigree; Retinal Detachment
PubMed: 37542296
DOI: 10.1186/s12920-023-01620-w -
American Journal of Ophthalmology Case... Dec 2023To report a case of XEN45 gel stent implantation in a pediatric patient with WAGR syndrome as a successful surgical intervention in the management of multifactorial...
PURPOSE
To report a case of XEN45 gel stent implantation in a pediatric patient with WAGR syndrome as a successful surgical intervention in the management of multifactorial secondary open-angle glaucoma.
OBSERVATIONS
A 6-year-old female with a history of WAGR syndrome, bilateral congenital aniridia, pseudophakia OD and glaucoma OD, was referred for a XEN45 gel stent OD. IOP was persistently elevated at 24 mm Hg despite two glaucoma medications. Implantation of the XEN45 gel stent was performed using a transconjunctival ab externo approach. There were no significant intra-or-postoperative adverse events associated with the stent. The patient achieved good IOP-lowering control without glaucoma medications across the 18-month follow-up period.
CONCLUSIONS
A XEN45 stent through a transconjunctival ab externo approach may be an effective surgical intervention in pediatric patients with secondary open-angle glaucoma associated with aniridia and aphakia.
PubMed: 37533700
DOI: 10.1016/j.ajoc.2023.101888 -
Graefe's Archive For Clinical and... Feb 2024This study uses bootstrapping to evaluate the technical variability (in terms of model parameter variation) of Zernike corneal surface fit parameters based on Casia2...
BACKGROUND
This study uses bootstrapping to evaluate the technical variability (in terms of model parameter variation) of Zernike corneal surface fit parameters based on Casia2 biometric data.
METHODS
Using a dataset containing N = 6953 Casia2 biometric measurements from a cataractous population, a Fringe Zernike polynomial surface of radial degree 10 (36 components) was fitted to the height data. The fit error (height - reconstruction) was bootstrapped 100 times after normalisation. After reversal of normalisation, the bootstrapped fit errors were added to the reconstructed height, and characteristic surface parameters (flat/steep axis, radii, and asphericities in both axes) extracted. The median parameters refer to a robust surface representation for later estimates of elevation, whereas the SD of the 100 bootstraps refers to the variability of the surface fit.
RESULTS
Bootstrapping gave median radius and asphericity values of 7.74/7.68 mm and -0.20/-0.24 for the corneal front surface in the flat/steep meridian and 6.52/6.37 mm and -0.22/-0.31 for the corneal back surface. The respective SD values for the 100 bootstraps were 0.0032/0.0028 mm and 0.0093/0.0082 for the front and 0.0126/0.0115 mm and 0.0366/0.0312 for the back surface. The uncertainties for the back surface are systematically larger as compared to the uncertainties of the front surface.
CONCLUSION
As measured with the Casia2 tomographer, the fit parameters for the corneal back surface exhibit a larger degree of variability compared with those for the front surface. Further studies are needed to show whether these uncertainties are representative for the situation where actual repeat measurements are possible.
Topics: Humans; Corneal Topography; Tomography, Optical Coherence; Cornea; Biometry
PubMed: 37530850
DOI: 10.1007/s00417-023-06186-y -
Indian Journal of Ophthalmology Aug 2023Aniridia is defined as missing iris tissue which can be partial, subtotal, or total. Characteristic clinical symptoms include photophobia and decreased visual acuity due...
BACKGROUND
Aniridia is defined as missing iris tissue which can be partial, subtotal, or total. Characteristic clinical symptoms include photophobia and decreased visual acuity due to an increased light perception. In addition to this, disturbing cosmetic problems are prevalent. Even after implantation of an intraocular lens, patients often tend to be unsatisfied.
PURPOSE
The answer to this problem lies in the implantation of an aniridic scleral fixation of intraocular lens (SFIOL), which has a central optical axis that acts as the refractive lens and a peripheral rim of a hyperpigmented area that mimics the iris and hence reduces photophobia. The purpose of the video was to demonstrate the use of black diaphragm intraocular lens (BDIOL) implantation, its surgical steps, and its outcomes.
SYNOPSIS
We report one such case where a young patient presented with post-traumatic aniridia with subluxated total cataract and spillover vitreous hemorrhage. He was subjected to a vitrectomy, cataract removal, and placement of an aniridic SFIOL with prolene 9-0 using the four-point fixation method. This gave an extremely gratifying outcome and solved both problems, that is, vision and photophobia. Highlight: Before implantation of the SFIOL, the patients had reduced visual acuity from aphakia and intolerable glare from aniridia. In this case-based approach and with relevant example, we tried to provide a solution for tricky scenarios like co-existing traumatic cataract and traumatic aniridia. The patient showed improved visual acuity and marked glare reduction after black diaphragm SFIOL implantation.
VIDEO LINK
https://youtu.be/atl60WetFsM.
Topics: Male; Humans; Lens Implantation, Intraocular; Photophobia; Lenses, Intraocular; Iris; Aniridia; Vision Disorders; Eye Injuries; Cataract
PubMed: 37530301
DOI: 10.4103/IJO.IJO_775_23 -
Comparison between Cultivated Oral Mucosa and Ocular Surface Epithelia for COMET Patients Follow-Up.International Journal of Molecular... Jul 2023Total bilateral Limbal Stem Cell Deficiency is a pathologic condition of the ocular surface due to the loss of corneal stem cells. Cultivated oral mucosa epithelial...
Total bilateral Limbal Stem Cell Deficiency is a pathologic condition of the ocular surface due to the loss of corneal stem cells. Cultivated oral mucosa epithelial transplantation (COMET) is the only autologous successful treatment for this pathology in clinical application, although abnormal peripheric corneal vascularization often occurs. Properly characterizing the regenerated ocular surface is needed for a reliable follow-up. So far, the univocal identification of transplanted oral mucosa has been challenging. Previously proposed markers were shown to be co-expressed by different ocular surface epithelia in a homeostatic or perturbated environment. In this study, we compared the transcriptome profile of human oral mucosa, limbal and conjunctival cultured holoclones, identifying Paired Like Homeodomain 2 () as a new marker that univocally distinguishes the transplanted oral tissue from the other epithelia. We validated PITX2 at RNA and protein levels to investigate 10-year follow-up corneal samples derived from a COMET-treated aniridic patient. Moreover, we found novel angiogenesis-related factors that were differentially expressed in the three epithelia and instrumental in explaining the neovascularization in COMET-treated patients. These results will support the follow-up analysis of patients transplanted with oral mucosa and provide new tools to understand the regeneration mechanism of transplanted corneas.
Topics: Humans; Mouth Mucosa; Follow-Up Studies; Epithelial Cells; Cells, Cultured; Epithelium; Stem Cell Transplantation; Transplantation, Autologous
PubMed: 37511281
DOI: 10.3390/ijms241411522 -
Genes Jul 2023The human fovea is a specialized pit structure in the central retina. Foveal hypoplasia is a condition where the foveal pit does not fully develop, and it is associated...
The human fovea is a specialized pit structure in the central retina. Foveal hypoplasia is a condition where the foveal pit does not fully develop, and it is associated with poor vision. Autosomal dominant isolated foveal hypoplasia (FVH1) is a rare condition of foveal hypoplasia (FH) that lacks any other ocular manifestations. FVH1 is associated with hypomorphic mutations in the gene that encodes a sequence-specific DNA-binding transcription factor for morphogenesis and evolution of the eye. We report our findings in 17 patients with mutations associated with FVH1 or FH with aniridia and corneal opacities. Patients with three mutations, p.V78E, p.V83F and p.R128H, in the C-terminal subdomain of the paired domain (CTS) consistently have severe FH. Luciferase assays for a single reporter containing a representative PAX6 binding site indicated that the transcriptional activities of these mutations were significantly reduced, comparable to that of the truncation mutation of p.G65Rfs*5. Patients with p.P20S in the N-terminal subdomain of the paired domain, and a patient with p.N365K in the proline-serine-threonine-rich domain (PSTD) had mild FH. A patient with p.Q255L in the homeodomain had severe FH. The P20S and Q255L mutants did not affect the transcriptional activity. Mutant N365K has a retained DNA-binding activity but a reduced transcriptional activity, due to a low PSTD transactivation. These findings demonstrated that mutations associated with FVH1 underlie a functional divergence between DNA-binding ability and transcriptional activity. We conclude that a wide range of mutations in the gene is not limited to the CST region and are responsible for FVH1.
Topics: Humans; DNA; Homeodomain Proteins; Mutation; Paired Box Transcription Factors; PAX6 Transcription Factor; Repressor Proteins
PubMed: 37510387
DOI: 10.3390/genes14071483