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Oftalmologia (Bucharest, Romania : 1990) 1997We have studied a family that has been presenting cases of congenital aniridia for three generations. A specific trace found in this family is the varied expression of... (Review)
Review
We have studied a family that has been presenting cases of congenital aniridia for three generations. A specific trace found in this family is the varied expression of the pathological gene as some members showed bilateral congenital aniridia, others showed unilateral aniridia with coloboma or just bilateral coloboma aspect. Aniridia can be found either as a "de novo" mutation in a family or as a continuous transmission between generations reproducing the dominant autosomal model. The ocular manifestations of this anomaly include: defects of the cornea, glaucoma, lens subluxations, hypoplasia of the fovea, nystagmus.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aniridia; Child; Female; Humans; Intellectual Disability; Male; Pedigree; Tooth Abnormalities
PubMed: 9409985
DOI: No ID Found -
Journal of Pediatric Ophthalmology and... 2008
Topics: Aniridia; Glaucoma; Humans; Infant; Intraocular Pressure
PubMed: 18705628
DOI: 10.3928/01913913-20080701-08 -
Human Molecular Genetics Jul 1993Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia...
Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions. Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia patients. In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial. These mutations highlight regions of the gene which are essential for normal PAX6 function. In addition, the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of aniridia.
Topics: Amino Acid Sequence; Animals; Aniridia; Base Sequence; Chromosomes, Human, Pair 11; DNA; DNA Mutational Analysis; Disease Models, Animal; Female; Humans; Male; Mice; Molecular Sequence Data; Mutation; Open Reading Frames; Polymerase Chain Reaction
PubMed: 8364574
DOI: 10.1093/hmg/2.7.915 -
Journal of Pediatric Ophthalmology and... 2000
Topics: Aniridia; Down Syndrome; Gonioscopy; Humans; Infant; Karyotyping; Male
PubMed: 11392414
DOI: 10.3928/0191-3913-20001101-14 -
Congenital Anomalies Jul 2023Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by...
Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by autosomal dominant PAX6 gene mutations. However, in about 30% of cases, it is associated with chromosomal rearrangements in the 11p13 region. The aim of this study was to identify the potential PAX6 gene variants, which could cause the isolated aniridia. Eight patients with isolated aniridia were included in this study. MLPA analysis allowed in the past to exclude large structural rearrangements of the PAX6 and adjacent genes like WT1. Blood samples were collected from the patients (and their families in familial cases) and genomic DNA was extracted from peripheral blood leukocytes and buccal cells. The amplification of the 11 exons of the PAX6 gene was performed. Bidirectional Sanger Sequencing was conducted for the identification of the potentially pathogenic variants, and for the segregation analysis of the identified variant in the family. The results were analyzed with the use of CodonCode Aligner software. In three patients, aniridia was sporadic, whereas in another five cases, the eye defect was familial. The potentially pathogenic variants in the PAX6 gene were found in 6 out of 8 patients with aniridia. We identified four known (c.781C > T, c.607C > T, and c.949C > T twice), and two novel variants (c.258_265del and c.495_496insG). Point mutations in the PAX6 gene are the most frequent cause of aniridia. The investigation of the genetic background of the disease is essential for patients to evaluate recurrence risk in the offspring.
Topics: Humans; PAX6 Transcription Factor; Paired Box Transcription Factors; Mouth Mucosa; Aniridia; Eye Abnormalities; Mutation; Homeodomain Proteins; Pedigree
PubMed: 37191119
DOI: 10.1111/cga.12520 -
BMC Ophthalmology May 2021Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly.
BACKGROUND
Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly.
METHODS
The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation.
RESULTS
A novel heterozygous PAX6 nonsense mutation c.619A > T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotype related to the novel mutation included nystagmus, keratopathy, absence of iris, cataract and foveal hypoplasia.
CONCLUSIONS
The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expanded the spectrum of the PAX6 mutation.
Topics: Aniridia; China; Eye Proteins; Heterozygote; Humans; Mutation; PAX6 Transcription Factor; Pedigree
PubMed: 34016071
DOI: 10.1186/s12886-021-01848-z -
Der Ophthalmologe : Zeitschrift Der... Nov 2020
Topics: Aniridia; Corneal Opacity; Humans; Infant
PubMed: 32034470
DOI: 10.1007/s00347-020-01051-3 -
BMJ Case Reports Aug 2021
Topics: Aniridia; Ectopia Lentis; Glaucoma; Humans; Hydrophthalmos; Iris
PubMed: 34404663
DOI: 10.1136/bcr-2021-244000 -
Revista Brasileira de Oftalmologia Mar 1952
Topics: Aniridia; Humans; Iris
PubMed: 14958104
DOI: No ID Found -
Survey of Ophthalmology 2018Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and...
Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and macula. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated nonocular features of the disease are also being recognized. Over the past decades, major steps have been made in the understanding of the genetic basis of aniridia. Moreover, recent studies have prepared the ground for future treatment options based on specific mutations. Therefore, specific knowledge about genetics in aniridia has become more important than ever. We provide an overview of the field of aniridia genetics and its clinical implications.
Topics: Aniridia; Carrier Proteins; Forkhead Transcription Factors; Homeodomain Proteins; Humans; Intracellular Signaling Peptides and Proteins; Mutation; PAX6 Transcription Factor; Paired Box Transcription Factors; Phenotype; Tripartite Motif Proteins
PubMed: 28923585
DOI: 10.1016/j.survophthal.2017.09.004