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Journal of Community Genetics Feb 2024This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-structured interviews were conducted with 8...
This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-structured interviews were conducted with 8 participants. The main findings highlighted the complex and interrelated factors involved in the decision-making process, including family planning, learning about the specific pathogenic variant of the disease and having access to genetic testing. Benefits and potential risks of genetic testing for aniridia were also discussed. For participants, gaining knowledge about their condition was perceived as a benefit, while administrative issues and concerns around privacy were identified as risks. Increased access to quality information about genetic testing and to the service and associated resources are needed to better support people living with aniridia.
PubMed: 37787878
DOI: 10.1007/s12687-023-00677-5 -
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 Sep 2023To identify the disease-causing gene in a Chinese family affected with congenital aniridia.
BACKGROUND
To identify the disease-causing gene in a Chinese family affected with congenital aniridia.
METHODS
Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography, and fundus fluorescein angiography. The proband was screened for pathogenic variants by whole exome sequencing (WES) and copy number variant (CNV) analysis. Real-time quantitative PCR (RT-qPCR) was applied to confirm the CNV results. Breakpoints were identified by long-range PCR followed by Sanger sequencing.
RESULTS
All seven members of this Chinese family, including four patients and three normal individuals, were recruited for this study. All patients showed bilateral congenital aniridia with nystagmus, except the son of the proband, who presented with bilateral partial coloboma of the iris. A novel heterozygous deletion (chr11:31,139,019-31,655,997) containing the 3' regulatory enhancers of the PAX6 gene was detected in this family. We also reviewed the reported microdeletions downstream of PAX6 in patients with aniridia.
CONCLUSIONS
We identified a novel microdeletion, 517 kb in size located about 133 kb downstream of the PAX6 gene, responsible for congenital aniridia in this Chinese family, which expands the spectrum of aniridia-associated mutations in PAX6.
Topics: Humans; Aniridia; East Asian People; Fluorescein Angiography; Iris; PAX6 Transcription Factor; Sequence Deletion
PubMed: 37752489
DOI: 10.1186/s12886-023-03147-1 -
International Journal of Ophthalmology 2023
PubMed: 37724271
DOI: 10.18240/ijo.2023.09.26 -
American Journal of Ophthalmology Case... Dec 2023Iris pigment deficiency in patients with oculocutaneous albinism (OCA) often causes debilitating photophobia, which is routinely managed by sequential intracapsular...
PURPOSE
Iris pigment deficiency in patients with oculocutaneous albinism (OCA) often causes debilitating photophobia, which is routinely managed by sequential intracapsular insertion of two aniridia rings. A common concern of this technique is the risk of segment interdigitation, which can lead to intraoperative complications.
OBSERVATIONS
In this report, we describe a modified technique through which both rings were stacked together and inserted simultaneously in a 62-year-old male patient with oculocutaneous albinism and a mild cataract. The patient underwent bilateral phacoemulsification followed by implantation of two Morcher 50E aniridia rings simultaneously, prior to IOL implantation behind the implants within the capsular bag. Post-operatively, the patient's photophobia improved dramatically, and there were no post-operative complications.
CONCLUSIONS AND IMPORTANCE
Simultaneous insertion of two stacked aniridia rings prior to IOL implantation was a safe and successful alternative surgical method for the management of photophobia in patients with oculocutaneous albinism and cataracts.
PubMed: 37711752
DOI: 10.1016/j.ajoc.2023.101921 -
PloS One 2023Intraocular lenses are typically calculated based on a pseudophakic eye model, and for toric lenses (tIOL) a good estimate of corneal astigmatism after cataract surgery...
BACKGROUND
Intraocular lenses are typically calculated based on a pseudophakic eye model, and for toric lenses (tIOL) a good estimate of corneal astigmatism after cataract surgery is required in addition to the equivalent corneal power. The purpose of this study was to investigate the differences between the preoperative IOLMaster (IOLM) and the preoperative and postoperative Casia2 (CASIA) tomographic measurements of corneal power in a cataractous population with tIOL implantation, and to predict total power (TP) from the IOLM and CASIA keratometric measurements.
METHODS
The analysis was based on a dataset of 88 eyes of 88 patients from 1 clinical centre before and after tIOL implantation. All IOLM and CASIA keratometric and total corneal power measurements were converted to power vector components, and the differences between preoperative IOLM or CASIA and postoperative CASIA measurements were assessed. Feedforward neural network and multivariate linear regression prediction algorithms were implemented to predict the postoperative total corneal power (as a reference for tIOL calculation) from the preoperative IOLM and CASIA keratometric measurements.
RESULTS
On average, the preoperative IOLM keratometric / total corneal power under- / overestimates the postoperative CASIA keratometric / real corneal power by 0.12 dpt / 0.21 dpt. The prediction of postoperative CASIA real power from preoperative IOLM or CASIA keratometry shows that postoperative total corneal power is systematically (0.18 dpt / 0.27 dpt) shifted towards astigmatism against the rule, which is not reflected by keratometry. The correlation of postoperative CASIA real power to the corresponding preoperative CASIA values is better than those as compared to the preoperative IOLM keratometry. However, there is a large variation from preoperative IOLM or CASIA keratometry to the postoperative CASIA real power of up to 1.1 dpt (95% confidence interval).
CONCLUSION
One of the challenges of tIOL calculation is the prediction of postoperative total corneal power from preoperative keratometry. Keratometric power restricted to a front surface measurement does not fully reflect the situation of corneal back surface astigmatism, which typically adds some extra against the rule astigmatism.
Topics: Humans; Astigmatism; Cornea; Lenses, Intraocular; Lenses; Corneal Diseases; Fabaceae; Cataract
PubMed: 37682881
DOI: 10.1371/journal.pone.0288316 -
Graefe's Archive For Clinical and... Mar 2024To provide insights into morphologic and functional features of eyes with complicated Descemet's membrane detachment (DMD) and report clinical outcomes after surgical...
PURPOSE
To provide insights into morphologic and functional features of eyes with complicated Descemet's membrane detachment (DMD) and report clinical outcomes after surgical intervention.
METHODS
Retrospective study of 18 eyes with complicated DMD between 2010 and 2022. Complicated DMD was defined if any of the following criteria applied: prior penetrating keratoplasty (PKP), corneal thinning, total DMD or persistent DMD after Air/Gas-Descemetopexy. Causes, surgical management, and clinical outcomes were analyzed. Scheimpflug tomography, anterior segment optical coherence tomography (AS-OCT) and histologic examination were performed to characterize corneas with DMD.
RESULTS
Fourteen eyes with prior PKP developed spontaneous DMD after 24.2 ± 12.9 years (range = 18 months - 47 years, median = 25.7 years). Complicated DMD without prior PKP was associated in three eyes after cataract surgery and in one eye after infectious keratitis. In cases with previous PKP, AS-OCT demonstrated rupture of Descemet's membrane (DM) in five eyes and spontaneous reattachment was found in four eyes within 8 weeks of initial diagnosis, with no rupture of DM in any of the cases. There was no rupture of DM in corneas without previous PKP. After prior keratoplasty, definitive surgical treatment was repeat PKP in 13 eyes and Air/Gas-Descemetopexy in one eye. In corneas without prior keratoplasty, three eyes underwent PKP and one eye Air/Gas-Descemetopexy. Histological examination of two corneal explants revealed a severely thinned graft-host junction and a disrupted DM close to the graft-host junction. Visual acuity improved from 1.80 ± 0.58 logMAR to 0.75 ± 0.69 logMAR after prior PKP and from 1.45 ± 0.65 logMAR to 0.85 ± 1.13 logMAR without prior PKP. The postoperative course was uneventful in 16 of 18 eyes.
CONCLUSION
PKP is an effective treatment option for complicated DMD, especially in ectatic corneas, whereas Air/Gas-Descemetopexy or Descemet Membrane Endothelial Keratoplasty do not address the primary issue of the curvature anomaly.
Topics: Humans; Descemet Membrane; Retrospective Studies; Cornea; Corneal Transplantation; Keratoplasty, Penetrating
PubMed: 37682334
DOI: 10.1007/s00417-023-06231-w -
Graefe's Archive For Clinical and... Mar 2024Intraocular lenses (IOLs) require proper positioning in the eye to provide good imaging performance. This is especially important for premium IOLs. The purpose of this...
BACKGROUND
Intraocular lenses (IOLs) require proper positioning in the eye to provide good imaging performance. This is especially important for premium IOLs. The purpose of this study was to develop prediction models for estimating IOL decentration, tilt and the axial IOL equator position (IOLEQ) based on preoperative biometric and tomographic measures.
METHODS
Based on a dataset (N = 250) containing preoperative IOLMaster 700 and pre-/postoperative Casia2 measurements from a cataractous population, we implemented shallow feedforward neural networks and multilinear regression models to predict the IOL decentration, tilt and IOLEQ from the preoperative biometric and tomography measures. After identifying the relevant predictors using a stepwise linear regression approach and training of the models (150 training and 50 validation data points), the performance was evaluated using an N = 50 subset of test data.
RESULTS
In general, all models performed well. Prediction of IOL decentration shows the lowest performance, whereas prediction of IOL tilt and especially IOLEQ showed superior performance. According to the 95% confidence intervals, decentration/tilt/IOLEQ could be predicted within 0.3 mm/1.5°/0.3 mm. The neural network performed slightly better compared to the regression, but without significance for decentration and tilt.
CONCLUSION
Neural network or linear regression-based prediction models for IOL decentration, tilt and axial lens position could be used for modern IOL power calculation schemes dealing with 'real' IOL positions and for indications for premium lenses, for which misplacement is known to induce photic effects and image distortion.
Topics: Humans; Tomography, Optical Coherence; Lenses, Intraocular; Biometry; Eye, Artificial; Lens, Crystalline
PubMed: 37658183
DOI: 10.1007/s00417-023-06208-9 -
Klinische Monatsblatter Fur... Mar 2024Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present....
PURPOSE
Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present. In order to develop better treatment options for this rare disease, an aniridia center must be established. The purpose of this work is to summarize ophthalmic findings of aniridia subjects examined at the Department of Ophthalmology, Saarland University Medical Center in Homburg.
METHODS
Our retrospective single-center study included patients who underwent a comprehensive ophthalmic examination through the head of the KiOLoN ("Kinderophthalmologie", Orthoptics, Low Vision and Neuroophthalmology) Unit of the department between June 2003 and January 2022. Data at the first examination time point have been included.
RESULTS
Of 286 subjects, 556 eyes of (20.1 ± 20.1 years; 45.5% males) were included. There was nystagmus in 518 (93.7%) eyes, and strabismus in 327 (58.8%) eyes. There were 436 (78.4%) eyes with age-appropriate axial length, 104 (18.7%) eyes with microphthalmos, and 13 (2.3%) eyes with buphthalmos. There was iris malformation with atypical coloboma in 34 eyes (6.1%), more than 6 clock hours of iris remnants in 61 eyes (10.9%), less than 6 clock hours of iris remnants in 96 eyes (17.2%), and complete aniridia in 320 (57.5%) eyes. The patients were graded according to the following aniridia-associated keratopathy (AAK) stages: Stage 0 (96 eyes [17.2%], no keratopathy), Stage 1 (178 eyes [32.0%]), Stage 2 (107 eyes [19.2%]), Stage 3 (67 eyes [12.0%]), Stage 4 (62 eyes [11.1%]), Stage 5 (45 eyes [8.0%]). There was secondary glaucoma in 307 (55.5%), macular hypoplasia in 395 (71.4%), and congenital optic nerve head pathology in 223 (40.3%) eyes. The iris malformation type was significantly positively correlated with AAK stage, lens properties, presence of glaucoma, congenital macular, and optic nerve head properties (p < 0.001 for all), while complete aniridia showed the most complications.
CONCLUSIONS
At the Homburg Aniridia Center, the most common ophthalmic signs in congenital aniridia were AAK, iris malformation, cataract, and macular hypoplasia. The iris malformation type may indicate future expression of AAK, cataract, and glaucoma development and it is correlated with a congenital optic nerve head and macular pathology. Our registry will support further detailed longitudinal analysis of ophthalmic and systemic diseases of aniridia subjects during long-term follow-up.
Topics: Male; Humans; Aged, 80 and over; Female; Cross-Sectional Studies; Retrospective Studies; Aniridia; Cataract; Corneal Diseases; Glaucoma; Vision Disorders
PubMed: 37647922
DOI: 10.1055/a-2065-8405 -
Orvosi Hetilap Aug 2023Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impairment.
INTRODUCTION
Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impairment.
OBJECTIVE
To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a questionnaire developed by the ANIRIDIA-NET.
PATIENTS AND METHOD
Patients completed the Hungarian version of the 20-item ANIRIDIA-NET questionnaire with our assistance. The questionnaire covered demographic data, the most common complaints caused by the disease, the difficulties caused by low vision in different life situations and the frequency of low vision aids used in daily life.
RESULTS
33 subjects (17 female [51.51%] and 16 male [48.48%]), 16 (48.5%) children and 17 (51.5%) adults completed the questionnaire, with an age of 25.69 ± 17.49 years (5-59 years). Daily photosensitivity was reported by 27 (81.8%), dry eyes by 5 (15.2%), tearing by 4 (12.1%), fluctuating vision by 3 (9.1%), and eye pain by 2 (6.1%) subjects. The majority of respondents said that personal communication with schoolmates (16 [48.5%]) or colleagues at work (11 [33.3%]) never caused difficulties because of their visual impairment. 29 people (87.9%) never needed help with daily routines at home, 24 (72.7%) with getting to school/work and 17 (51.5%) with various activities. 29 people (87.8%) never used low vision aids for communication, 23 (69.7%) for travelling, 20 (60.6%) for participating in social activities, 18 (54.5%) for studying/work.
CONCLUSION
Although aniridia is associated with reduced visual acuity, the majority of people with congenital aniridia, especially in childhood, manage to cope with personal communication and various life situations without difficulty, despite their eye complaints. Low vision aids can be an important aid for them as they grow into adulthood and as they age. Orv Hetil. 2023; 164(34): 1342-1349.
Topics: Adult; Child; Humans; Female; Male; Adolescent; Young Adult; Vision, Low; Hungary; Aniridia; Communication; Keratoconjunctivitis Sicca; Rare Diseases
PubMed: 37634154
DOI: 10.1556/650.2023.32845