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Journal of Clinical Medicine Jun 2023Given the various ocular manifestations of limbal stem cell insufficiency, an awareness of the genetic, acquired, and immunological causes and associated additional... (Review)
Review
Given the various ocular manifestations of limbal stem cell insufficiency, an awareness of the genetic, acquired, and immunological causes and associated additional treatments of limbal stem cell deficiency (LSCD) is essential for providers. We performed a comprehensive review of the literature on the various etiologies and specific therapies for LSCD. The resources utilized in this review included Medline (PubMed), Embase, and Google Scholar. All English-language articles and case reports published from November 1986 through to October 2022 were reviewed in this study. There were collectively 99 articles on these topics. No other exclusion criteria were applied. Depending on the etiology, ocular manifestations of limbal stem cell deficiency range from dry eye syndrome and redness to more severe outcomes, including corneal ulceration, ocular surface failure, and vision loss. Identifying the source of damage for LSCD is critical in the treatment process, given that therapy may extend beyond the scope of the standard protocol, including artificial tears, refractive surgery, and allogeneic stem cell transplants. This comprehensive review of the literature demonstrates the various genetic, acquired, and immunological causes of LSCD and the spectrum of supplemental therapies available.
PubMed: 37445454
DOI: 10.3390/jcm12134418 -
Current Eye Research Jan 2020: Aniridia is a rare congenital eye disease, characterized by a constellation of symptoms including hypoplastic irides, foveal hypoplasia, early cataract, corneal stem...
: Aniridia is a rare congenital eye disease, characterized by a constellation of symptoms including hypoplastic irides, foveal hypoplasia, early cataract, corneal stem cell deficiency, and glaucoma. Large chromosomal deletions spanning the gene cause WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability [formerly called mental retardation]). We describe clinical and genetic studies of a three-generation pedigree with aniridia along with additional systemic conditions (morbid obesity, diabetes) suggesting the possibility of a contiguous-gene syndrome like WAGR.: Clinical records were obtained and DNA was prepared from blood samples from three of the four patients and tested for mutations in the coding sequences of the gene. The index patient also had cardiomyopathy and was tested for known cardiomyopathy genetic mutations using a next-generation DNA sequencing assay.: We discovered a novel intragenic mutation, a 16 bp heterozygous deletion c.203delCCAGGGCAATCGGTGG, with Sanger sequencing that is the likely cause of autosomal dominant aniridia in this pedigree. This deletion causes a frameshift in predicted protein translation and a subsequent premature termination, p.Pro68Leufs*6. The deletion was detected in all three available family members with aniridia, the index patient, his mother, and his maternal aunt but was not observed in the ome ggregation onsortium (ExAC) database. Targeted sequencing of known cardiomyopathy genes in the index patient identified a second mutation, a 1.7 Mp deletion that spans the gene.: We report a pedigree with aniridia and other systemic abnormalities that were initially suspicious for a contiguous-gene syndrome like WAGR. However, genetic analysis of the pedigree revealed two independent genetic abnormalities on chromosome 11p: 1) a novel mutation, and 2) a large chromosome deletion spanning , a known cardiomyopathy gene. It is unclear if morbid obesity and type II diabetes mellitus have a related genetic cause.
Topics: Aniridia; DNA; DNA Mutational Analysis; Diabetes Mellitus, Type 2; Female; Humans; Male; Mutation; Obesity, Morbid; PAX6 Transcription Factor; Pedigree; Phenotype
PubMed: 31361967
DOI: 10.1080/02713683.2019.1649704 -
Arquivos de Neuro-psiquiatria Jun 2020
Topics: Aniridia; Cerebellar Ataxia; Humans; Intellectual Disability
PubMed: 32609195
DOI: 10.1590/0004-282X20200013 -
PloS One 2017Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases....
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus. Our approach increased the detection rate in a Spanish cohort of 38 patients with aniridia, WAGR syndrome and other related ocular malformations, allowing to characterize four undiagnosed aniridia cases, and to confirm MLPA findings in four additional patients. For all patients, breakpoints were accurately established and a contiguous deletion syndrome, involving a large number of genes, was identified in three patients. Moreover, we identified novel microdeletions affecting 3' PAX6 regulatory regions in three families with isolated aniridia. This tool represents a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a more accurate CNVs detection, as well as a better delineation of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns and those without defects in PAX6 after diagnostic screening.
Topics: Aniridia; Chromosome Deletion; Chromosomes, Human, Pair 11; Comparative Genomic Hybridization; Female; Humans; Male; Oligonucleotide Array Sequence Analysis; PAX6 Transcription Factor; WAGR Syndrome
PubMed: 28231309
DOI: 10.1371/journal.pone.0172363 -
Diseases (Basel, Switzerland) Apr 2024Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various...
UNLABELLED
Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various anomalies, including keratopathy, cataract, glaucoma, and foveal and optic nerve hypoplasia. Additionally, nearly 50% of individuals with congenital aniridia experience symptoms of ocular dryness. Traditional treatment encompasses artificial tears and autologous serum. This study aimed to assess the effectiveness and safety of using platelet rich in growth factors (PRGF) plasma in patients with congenital aniridia and ocular dryness symptoms.
METHODS
The included patients underwent two cycles of a 3-month PRGF treatment. At 6 months, symptomatology was evaluated using the OSDI and SANDE questionnaires, and ocular surface parameters were analyzed.
RESULTS
The OSDI and SANDE values for frequency and severity demonstrated statistically significant improvements ( < 0.05). Ocular redness, corneal damage (corneal staining), and tear volume (Schirmer test) also exhibited statistically significant improvements ( < 0.05). No significant changes were observed in visual acuity or in the grade of meibomian gland loss.
CONCLUSION
The use of PRGF in patients with congenital aniridia and ocular dryness symptoms led to significant improvements in symptomatology, ocular redness, and ocular damage. No adverse effects were observed during the use of PRGF.
PubMed: 38667534
DOI: 10.3390/diseases12040076 -
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 -
Acta Ophthalmologica Nov 2008To investigate the epidemiology of aniridia in the populations of Sweden and Norway.
PURPOSE
To investigate the epidemiology of aniridia in the populations of Sweden and Norway.
METHODS
A thorough search for aniridia patients has been performed in Sweden and Norway. All participants had a clinical ophthalmological examination documented through photography. Blood samples were taken for mutation analysis and pedigrees were established.
RESULTS
A total of 181 patients with aniridia were identified in the two countries. This gives an age-specific prevalence of 1:72,000 in the entire region, 1:70,000 in Sweden and 1:76,000 in Norway. A total of 124 individuals (69%) were examined. Male/female ratio was 0.94 (Sweden 0.85 and Norway 1.2). Mean age of the examined patients was 29 years and median age 25 years. We did not find any significant age difference between the two countries. The mean visual acuity (VA) was 0.19 (Sweden 0.19 and Norway 0.18).The number of families with more than one affected member was 31 and the number of sporadic cases was 40.
CONCLUSION
We have done a thorough search of the literature, but we have found no earlier studies describing aniridia in an entire country and only a few reports from larger areas. We assume that most aniridia patients have been found and the aniridia prevalence of 1:72,000 can be regarded as well supported. Further studies on other aspects of aniridia are in progress, and information from these can contribute to guidelines for the care of patients with this rare but serious disease.
Topics: Adolescent; Adult; Age Distribution; Aged; Aniridia; Child; Child, Preschool; Eye Proteins; Female; Genes, Wilms Tumor; Homeodomain Proteins; Humans; Infant; Male; Middle Aged; Mutation; Norway; PAX6 Transcription Factor; Paired Box Transcription Factors; Prevalence; Repressor Proteins; Sex Distribution; Sweden; Visual Acuity; Young Adult
PubMed: 18494745
DOI: 10.1111/j.1755-3768.2008.01309.x -
International Journal of Ophthalmology 2024To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members...
AIM
To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members with atypical aniridia.
METHODS
Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations. A combination of whole exome sequencing (WES) and direct Sanger sequencing were performed to uncover the causative mutation.
RESULTS
Among the 11 family members, 8 were clinically diagnosed with congenital aniridia (atypical aniridia phenotype). A rare heterozygous mutation c.622C>T (p.Arg208Trp) in exon 8 of was identified in all affected family members but not in the unaffected members or in healthy control subjects.
CONCLUSION
A rare missense mutation in the gene is found in members of a three-generation Chinese family with congenital atypical aniridia. This result contributes to an increase in the phenotypic spectrum caused by missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia, which may also contribute to genetic counselling and family planning.
PubMed: 38721508
DOI: 10.18240/ijo.2024.03.07 -
Klinische Monatsblatter Fur... Mar 2018
Topics: Aniridia; Humans
PubMed: 27975340
DOI: 10.1055/s-0042-117836 -
GMS Ophthalmology Cases 2020To describe our results with HumanOptics IOL-Artificial complex in post traumatic aphakia and aniridia. Retrospective, single-surgeon chart review of cases in which...
To describe our results with HumanOptics IOL-Artificial complex in post traumatic aphakia and aniridia. Retrospective, single-surgeon chart review of cases in which aniridia and aphakia were corrected using HumanOptics IOL-Artificial complex sutured to the sclera with Gore-Tex sutures and coupled with the Akreos IOL (Bausch&Lomb). The authors present four cases of ocular trauma with globe rupture. For every patient, posterior vitrectomy was done and an artificial iris-lens diaphragm was sutured to the sclera. All patients had a good functional and cosmetic outcome. Surgical implantation of the HumanOptics IOL-Artificial complex coupled with the Akreos IOL was successful in alleviating post-trauma aphakia and aniridia related visual impairment.
PubMed: 32676264
DOI: 10.3205/oc000146