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Survey of Ophthalmology 2024
PubMed: 38326136
DOI: 10.1016/j.survophthal.2024.01.001 -
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 -
Taiwan Journal of Ophthalmology 2023The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including... (Review)
Review
The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld-Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach.
PubMed: 38249510
DOI: 10.4103/tjo.TJO-D-23-00062 -
Taiwan Journal of Ophthalmology 2023Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been... (Review)
Review
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia. In the majority of cases, aniridia is caused by a mutation in the gene, which affects multiple structures within the eye. Treating these ocular complications is challenging and carries a high risk of side effects. However, emerging approaches for the treatment of aniridia-associated keratopathy, iris abnormalities, cataract abnormalities, and foveal hypoplasia show promise for improved outcomes. Genetic counseling plays a very important role to make informed choices. We also provide an overview of the newer diagnostic and therapeutic approaches such as next generation sequencing, gene therapy, silencing, and miRNA modulation.
PubMed: 38249501
DOI: 10.4103/tjo.TJO-D-23-00140 -
Current Issues in Molecular Biology Dec 2023This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment...
This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous substitution, p.(Asn114Ser), within the gene's paired domain is identified. Although this substitution is not in direct contact with DNA, its predicted stabilizing effect on the protein structure challenges the traditional understanding of mutations, suggesting a gain-of-function mechanism. Contrary to classical loss-of-function effects, this gain-of-function hypothesis aligns with research demonstrating PAX6's dosage sensitivity. Gain-of-function mutations, though less common, can lead to diverse phenotypes distinct from aniridia. Our findings emphasize 's multifaceted influence on ocular phenotypes and the importance of genetic variations. We contribute a new perspective on mutations by suggesting a potential gain-of-function mechanism and showcasing the complexities of ocular development. This study sheds light on the intricate interplay of the genetic alterations and regulatory mechanisms underlying complex eye phenotypes. Further research, validation, and collaboration are crucial to unravel the nuanced interactions shaping ocular health and development.
PubMed: 38248310
DOI: 10.3390/cimb46010008 -
Vestnik Oftalmologii 2023Secondary glaucoma is one of the main problems of rehabilitation of patients with traumatic damage of the iris.
UNLABELLED
Secondary glaucoma is one of the main problems of rehabilitation of patients with traumatic damage of the iris.
PURPOSE
This study analyzes the long-term results of rehabilitation of patients with posttraumatic aniridia and glaucoma.
MATERIAL AND METHODS
The study included 310 patients (310 eyes) with posttraumatic aniridia who had artificial iris-lens diaphragm (ILD) MIOL-Raduzhka implanted in 2002-2022. Before ILD implantation, 61 patients (22.8%) had secondary glaucoma. Among them 35 patients (11.3%) underwent various modifications of glaucoma surgery. In 26 patients (8.6%), intraocular pressure (IOP) was compensated medically before ILD implantation.
RESULTS
Until the third month after ILD implantation, there was a trend for IOP increase in some patients. Decompensation was noted in 8 (22.9%) out of 35 patients who had underwent glaucoma surgery. IOP decompensation was observed in 21 (80.8%) of 26 cases in patients with glaucoma compensated by drugs before ILD implantation. After ILD implantation, glaucoma appeared for the first time in 21 patients (6.8%) out of 310. In order to compensate IOP after ILD implantation, Ahmed valve implantation was performed most often - in 35 cases (70%) out of 50, deep sclerectomy - in 5 cases (10%), non-penetrating deep sclerectomy - in 4 cases (8%), micropulse transscleral laser cyclophotocoagulation (MP-TSCPC) - in 5 cases (10%), endoscopic cyclophotocoagulation (ECP) - in 1 case (2%).
CONCLUSION
ILD implantation in patients with posttraumatic aniridia and secondary glaucoma should be performed with IOP compensated without hypotensive therapy and not earlier than 6-12 months after glaucoma surgery. The most optimal glaucoma surgery types in this group of patients are Ahmed valve implantation and MP-TSCPC.
Topics: Humans; Lens Implantation, Intraocular; Visual Acuity; Aniridia; Iris; Glaucoma; Intraocular Pressure; Retrospective Studies; Treatment Outcome; Laser Coagulation
PubMed: 38235632
DOI: 10.17116/oftalma202313906169 -
Journal of Neuro-ophthalmology : the... Jan 2024This study aims to characterize optic disc hypoplasia in congenital aniridia using ultra-wide-field imaging (UWFI) and nonmydriatic retinal photography (NMRP). We also...
BACKGROUND
This study aims to characterize optic disc hypoplasia in congenital aniridia using ultra-wide-field imaging (UWFI) and nonmydriatic retinal photography (NMRP). We also investigated the relation between optic disc hypoplasia and foveal hypoplasia.
METHODS
This is a retrospective case series of patients diagnosed with PAX6 -related aniridia in a National Referral Center, who underwent UWFI, NMRP, and spectral-domain optical coherence tomography (SD-OCT) . The disc diameter (DD) and the disc-to-fovea distance (DF) were measured. The DD:DF ratio was used to assess the relative size of the optic disc. The analyses were carried with respect to paired age- and sex-matched healthy controls. SD-OCT was used for foveal hypoplasia grading (from 1 to 4) and retinal nerve fiber layer (RNFL) analysis.
RESULTS
Mean manual DD:DF ratio was 0.33 (95% CI: 0.31-0.35) in aniridia patients versus 0.37 (95% CI: 0.36-0.39) in control patients (n = 20, P = 0.005) measured on NMRP and 0.32 (95% CI: 0.30-0.35) in aniridia patients versus 0.37 (95% CI: 0.37-0.39) in control patients (n = 26, P < 0.0001) when assessed on UWFI. Mean semiautomated DD:DF ratio measured on UWFI in aniridia patients was 0.31 (95% CI: 0.29-0.33) versus 0.37 (95% CI: 0.36-0.38) in control patients ( P < 0.0001). Also, a negative correlation was found significant between the grade of foveal hypoplasia and the mean semiautomated DD:DF ratio (r = -0.52, 95% CI: -0.76 to -0.15, P = 0.0067). Finally, a significant negative correlation was found between the peripapillary temporal RNFL thickness and the grade of foveal hypoplasia ( P = 0.0034).
CONCLUSIONS
The DD:DF ratio is significantly reduced in PAX6 -related aniridia patients and correlates with the severity of foveal hypoplasia. This ratio is a valuable tool for optic disc hypoplasia assessment in congenital aniridia, especially when provided semiautomatically by UWFI.
PubMed: 38227763
DOI: 10.1097/WNO.0000000000002083 -
Journal of Clinical Medicine Dec 2023To demonstrate the results of ray tracing higher- and lower-order aberrations in pseudophakic eyes with rotationally asymmetrical segment multifocal lenses, total high-...
To demonstrate the results of ray tracing higher- and lower-order aberrations in pseudophakic eyes with rotationally asymmetrical segment multifocal lenses, total high- and low-order aberrations, measured by root mean square value (RMS), refraction, uncorrected distance and uncorrected near visual acuity (UCDVA and UCNVA), and tear break-up time, were measured at scotopic size in 42 eyes of patients implanted with bifocal refractive Mplus15/Mplus30 IOL with +1.5 dpt near addition (42 eyes of patients implanted with Mplus15)/+3.0 dpt near addition (91 eyes of patients implanted with Mplus30), and 107 eyes of control group. No significant differences were noticed between the examined groups concerning UCDVA, UCNVA, and tear break-up time ( < 0.001). Coma and total high-order aberrations were significantly higher for the Mplus30 lens in comparison to the Mplus15 lens and the control group (Coma, Trefoil < 0.001, Secondary Astigmatism = 0.002). The spherical aberrations were significantly higher in the lower-addition lens ( = 0.016) in comparison to the control group and to the higher-addition lens group ( < 0.001). Both intraocular lens models were successful at reaching refractive aim, good distance, and near function with the lower higher-order aberrations for the low-addition lens.
PubMed: 38202246
DOI: 10.3390/jcm13010239 -
Optometry and Vision Science : Official... Dec 2023Eye tracking is a promising method for objectively assessing functional visual capabilities, but its suitability remains unclear when assessing the vision of people with...
BACKGROUND
Eye tracking is a promising method for objectively assessing functional visual capabilities, but its suitability remains unclear when assessing the vision of people with vision impairment. In particular, accurate eye tracking typically relies on a stable and reliable image of the pupil and cornea, which may be compromised by abnormalities associated with vision impairment (e.g., nystagmus, aniridia).
OBJECTIVES
This study aimed to establish the degree to which video-based eye tracking can be used to assess visual function in the presence of vision impairment.
DATA SOURCES
A systematic review was conducted using PubMed, EMBASE, and Web of Science databases, encompassing literature from inception to July 2022.
STUDY ELIGIBILITY CRITERIA, PARTICIPANTS, AND INTERVENTIONS
Studies included in the review used video-based eye tracking, included individuals with vision impairment, and used screen-based tasks unrelated to practiced skills such as reading or driving.
STUDY APPRAISAL AND SYNTHESIS METHODS
The included studies were assessed for quality using the Strengthening the Reporting of Observational Studies in Epidemiology assessment tool. Data extraction and synthesis were performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.
RESULTS
Our analysis revealed that five common tests of visual function were used: (i) fixation stability, (ii) smooth pursuit, (iii) saccades, (iv) free viewing, and (v) visual search. The studies reported considerable success when testing individuals with vision impairment, yielding usable data from 96.5% of participants.
LIMITATIONS
There was an overrepresentation of conditions affecting the optic nerve or macula and an underrepresentation of conditions affecting the anterior segment or peripheral retina.
CONCLUSIONS AND IMPLICATIONS OF KEY FINDINGS
The results offer promise for the use of eye tracking to assess the visual function of a considerable proportion of those with vision impairment. Based on the findings, we outline a framework for how eye tracking can be used to test visual function in the presence of vision impairment.
Topics: Humans; Eye-Tracking Technology; Nystagmus, Pathologic; Retina; Pursuit, Smooth
PubMed: 38165789
DOI: 10.1097/OPX.0000000000002088 -
American Journal of Ophthalmology Case... Dec 2023To report an alternative technique to implant the EndoArt using a pull-through insertion. This technique is helpful in complex eyes, especially in eyes with unstable...
PURPOSE
To report an alternative technique to implant the EndoArt using a pull-through insertion. This technique is helpful in complex eyes, especially in eyes with unstable iris lens diaphragm.
OBSERVATION
We present a case of advanced pseudophakic bullous keratopathy with aniridia, previous vitrectomy, and tube implants in which the initial attempt to implant the EndoArt failed, and the device was lost to the vitreous cavity. An alternative surgical technique, a pull-through insertion, was used to implant a second device successfully. The patient was followed over a period of 1 year. Corneal edema gradually improved over time, and all epithelial bullae resolved. The central corneal thickness (CCT) decreased from 911um to 691 μm.
CONCLUSION AND IMPORTANCE
EndoArt is a treatment for endothelial failure in complex eyes. In addition, the pull-through insertion technique can help improve control over the implant in very complicated eyes.
PubMed: 38161520
DOI: 10.1016/j.ajoc.2023.101878