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Current Opinion in Ophthalmology Jan 2010In the past years, several new options have been developed for the surgical management of aniridia in the course of cataract surgery. (Review)
Review
PURPOSE OF REVIEW
In the past years, several new options have been developed for the surgical management of aniridia in the course of cataract surgery.
RECENT FINDINGS
The lens capsule may be altered - thinned - in aniridia, requiring particular attention in order to avoid complications with possible consequences for the surgical plan. Iris prosthetic devices for complete or partial restoration of an iris diaphragm have been developed and their use described. There are options for intracapsular placement as well as for fixation without using a capsular bag and options for improved cosmetic appearance have been created. Corneal tattooing is still an option for selected cases and has been refined technically. Complications attributable with the iris prostheses are relatively infrequent and manageable.
SUMMARY
Cataract surgery offers an opportunity to manage associated partial or (sub)total aniridia of all origins with good to excellent functional and esthetic results with a relatively low and manageable complication potential.
Topics: Aniridia; Artificial Organs; Cataract; Cataract Extraction; Humans; Prostheses and Implants
PubMed: 19890208
DOI: 10.1097/ICU.0b013e328333ea49 -
Archivos de La Sociedad Espanola de... Nov 2021
Topics: Aniridia; Humans
PubMed: 34836584
DOI: 10.1016/j.oftale.2021.02.001 -
Ophthalmology. Glaucoma 2022
Topics: Aniridia; Glaucoma Drainage Implants; Humans
PubMed: 35337652
DOI: 10.1016/j.ogla.2021.10.001 -
Histochemistry and Cell Biology Aug 2022We aimed to study aniridia-related keratopathy (ARK) relevant cell signaling pathways [Notch1, Wnt/β-catenin, Sonic hedgehog (SHH) and mTOR] in normal human fetal...
We aimed to study aniridia-related keratopathy (ARK) relevant cell signaling pathways [Notch1, Wnt/β-catenin, Sonic hedgehog (SHH) and mTOR] in normal human fetal corneas compared with normal human adult corneas and ARK corneas. We found that fetal corneas at 20 weeks of gestation (wg) and normal adult corneas showed similar staining patterns for Notch1; however 10-11 wg fetal corneas showed increased presence of Notch1. Numb and Dlk1 had an enhanced presence in the fetal corneas compared with the adult corneas. Fetal corneas showed stronger immunolabeling with antibodies against β-catenin, Wnt5a, Wnt7a, Gli1, Hes1, p-rpS6, and mTOR when compared with the adult corneas. Gene expression of Notch1, Wnt5A, Wnt7A, β-catenin, Hes1, mTOR, and rps6 was higher in the 9-12 wg fetal corneas compared with adult corneas. The cell signaling pathway differences found between human fetal and adult corneas were similar to those previously found in ARK corneas with the exception of Notch1. Analogous profiles of cell signaling pathway activation between human fetal corneas and ARK corneas suggests that there is a less differentiated host milieu in ARK.
Topics: Aniridia; Cornea; Fetus; Hedgehog Proteins; Humans; Signal Transduction; TOR Serine-Threonine Kinases; beta Catenin
PubMed: 35551459
DOI: 10.1007/s00418-022-02099-9 -
Archivos de La Sociedad Espanola de... Aug 2006To attempt to review the aniridia keratopathy pathogenesis and establish a treatment protocol according to the severity of the symptoms. (Review)
Review
OBJECTIVE
To attempt to review the aniridia keratopathy pathogenesis and establish a treatment protocol according to the severity of the symptoms.
METHODS
Personal experience in aniridic keratopathy management and a bibliography review.
RESULTS
The ocular manifestations of this anomaly include defects of the cornea, glaucoma, lens subluxation, cataracts, hypoplasia of the iris, fovea and optic nerve, amblyopia and nystagmus. The keratopathy occurs in a 20% of patients with aniridia. The correct PAX6 expression is necessary for normal corneal development, limbal stem cell activity and correct corneal epithelial cell migration and adhesion.
CONCLUSIONS
The management of ocular surface diseases due to limbal stem cell deficiency in aniridia is complex but has changed in recent years, as an understanding of the limbal stem cells and their microenvironment has modified the therapeutic approach. The use of autologous serum eye drops, amniotic membrane transplantation, limbal transplantation or cultivated limbal cell transplantation have all been reported as a treatment for several ocular surface diseases.
Topics: Aniridia; Cornea; Corneal Diseases; Corneal Transplantation; Humans
PubMed: 16933167
DOI: 10.4321/s0365-66912006000800004 -
Ryoikibetsu Shokogun Shirizu 2001
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The American Orthoptic Journal 2014Aniridia is linked to a mutation of the PAX6 gene, which results in panocular anomalies. A set of common secondary pathologies associated with aniridia is recognized.... (Comparative Study)
Comparative Study
BACKGROUND AND PURPOSE
Aniridia is linked to a mutation of the PAX6 gene, which results in panocular anomalies. A set of common secondary pathologies associated with aniridia is recognized. Much of the literature on aniridia focuses on genetic factors of the disorder and associated abnormalities, both ocular and nonocular. The field of research on the prevalence of pathology secondary to ocular abnormalities associated with aniridia is limited, with many of the studies based on low patient numbers. This study contributes patient data on the prevalence and significance of ocular pathology in aniridia.
PATIENTS AND METHOD
We conducted a retrospective chart review of patients with aniridia treated at the Vanderbilt Eye Institute between July 1, 2011, and July 1, 2012. We compiled data on visual acuities and ocular pathologies, comparing our results with previous studies.
RESULTS
The percentage of patients in our study with nystagmus and cataract was within the range reported among several studies. However, the rate of glaucoma and corneal disease among our adult study patients was higher. Despite being a prominent feature of aniridia, retinal pathology is difficult to quantify; data on retinal pathology is scarce in the literature and difficult to obtain through a retrospective chart review due to the multiple factors impacting the retina in aniridia.
CONCLUSION
In addition to the challenges posed by ocular anomalies that occur in anirida, the progressive nature of processes common in the condition have significant implications for long-term visual outcomes.
Topics: Adolescent; Adult; Aged; Aniridia; Cataract; Child; Child, Preschool; Eye Proteins; Genetic Predisposition to Disease; Homeodomain Proteins; Humans; Incidence; Infant; Middle Aged; Nystagmus, Pathologic; PAX6 Transcription Factor; Paired Box Transcription Factors; Prevalence; Repressor Proteins; Retrospective Studies; Young Adult
PubMed: 25313118
DOI: 10.3368/aoj.64.1.98 -
Indian Journal of Pediatrics May 2009The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome... (Review)
Review
The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation. Haploinsufficiency renders PAX6 allele non-functional or amorphic, however it presents hypomorphic or neomorphic alleles. India is not a well-studied ethnic group, hence the focus on congenital aniridia gene analysis supports the literature and the phenotypic association were analysed both in sporadic as well as familial. The consistent association of truncating PAX6 mutations with the phenotype is owing to non-sense-mediated decay (NMD). It is presumed that the genetic impact of increased homozygosity and heterozygocity in Indian counter part arises as the consequence of consanguineous marriages. The real fact involved in congenital aniridia with other related phenotypes with PAX6 mutations are still controversial.
Topics: Aniridia; Child, Preschool; Counseling; Female; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; India; Infant; Infant, Newborn; Male; Mutation; Neonatal Screening; Paired Box Transcription Factors; Phenotype; Risk Assessment
PubMed: 19390808
DOI: 10.1007/s12098-009-0075-4 -
Internal Medicine (Tokyo, Japan) 2014We herein report the case of a woman with aniridia and with a heterozygous PAX6 mutation. Pax6 is a transcription factor involved in the development of several organs,... (Review)
Review
We herein report the case of a woman with aniridia and with a heterozygous PAX6 mutation. Pax6 is a transcription factor involved in the development of several organs, including the eye, pancreas and pituitary. The patient had been diagnosed with aniridia in childhood and was found to have impaired glucose tolerance with a heterozygous PAX6 mutation 12 years prior to the current admission. Hormone stimulating tests revealed a slightly impaired pituitary function, including subtle hypogonadotropic hypogonadism and borderline growth hormone (GH) deficiency. The present case is the first report of a slightly impaired pituitary function in an aniridia patient with a heterozygous PAX6 mutation.
Topics: Adult; Aniridia; Eye Proteins; Female; Heterozygote; Homeodomain Proteins; Humans; Hypopituitarism; Mutation; PAX6 Transcription Factor; Paired Box Transcription Factors; Pilot Projects; Pituitary Gland; Repressor Proteins
PubMed: 24390526
DOI: 10.2169/internalmedicine.53.1184 -
Brain Research Apr 2021The paired-box 6 (PAX6) gene encodes a highly conserved transcription factor essential for the proper development of the eye and brain. Heterozygous loss-of-function... (Review)
Review
The paired-box 6 (PAX6) gene encodes a highly conserved transcription factor essential for the proper development of the eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for a condition known as aniridia in humans and the Small eye phenotype in mice. Aniridia is characterized by iris hypoplasia and other ocular abnormalities, but recent evidence of neuroanatomical, sensory, and cognitive impairments in this population has emerged, indicating brain-related phenotypes as a prevalent feature of the disorder. Determining the neurophysiological origins of brain-related phenotypes in this disorder presents a substantial challenge, as the majority of extra-ocular traits in aniridia demonstrate a high degree of heterogeneity. Here, we summarize and integrate findings from human and rodent model studies, which have focused on neuroanatomical and functional consequences of PAX6 mutations. We highlight novel findings from PAX6 central nervous system studies in adult mammals, and integrate these findings into what we know about PAX6's role in development of the central nervous system. This review presents the current literature in the field in order to inform clinical application, discusses what is needed in future studies, and highlights PAX6 as a lens through which to understand genetic disorders affecting the human nervous system.
Topics: Animals; Aniridia; Brain; Eye Abnormalities; Homeodomain Proteins; Humans; PAX6 Transcription Factor; Paired Box Transcription Factors
PubMed: 33515537
DOI: 10.1016/j.brainres.2021.147283