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Klinische Monatsblatter Fur... Aug 2013
Review
Topics: Aniridia; Eye, Artificial; Humans; Lens Implantation, Intraocular; Lenses, Intraocular; Vision Disorders
PubMed: 23959509
DOI: 10.1055/s-0033-1350696 -
Journal of Glaucoma Apr 2002
Topics: Aniridia; Child; Corneal Edema; Genetic Counseling; Glaucoma, Angle-Closure; Humans; Intraocular Pressure; Iris; Male; Microphthalmos
PubMed: 11912365
DOI: 10.1097/00061198-200204000-00013 -
Ophthalmic Genetics Oct 2023Mutations in gene (chromosome 11p13) encoding a transcriptional regulator involved in oculogenesis mostly present with aniridia. Aniridia is not uncommon in the...
PURPOSE
Mutations in gene (chromosome 11p13) encoding a transcriptional regulator involved in oculogenesis mostly present with aniridia. Aniridia is not uncommon in the Philippines but only limited information is available as yet. The purpose of this study was to present a novel, deletion mediated by complex rearrangement in gene causing an isolated aniridia in a Filipino girl.
PATIENTS AND METHODS
The patient is an 8-year-old girl who came in due to leukocoria with associated nystagmus and esotropia. She presented with subnormal vision, nystagmus, aniridia, and cataractous lenses in both eyes. The family history reveals presence of the aniridia and cataract with the mother and a sibling. The patient underwent lens extraction without intraocular lens implantation bilaterally, where patient subsequently underwent intraocular lens implantation on her left eye. Systemic workup was performed including whole abdomen, renal ultrasound, blood chemistry, and urinalysis. Targeted cataract panel with and genes revealed a novel, heterozygous -inherited mutation from the mother. This variant is a complex rearrangement in involving partial deletions of exons 3-5, including the initiator codon. Deletions of are part of a contiguous gene deletion syndrome - Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome - and therefore evaluation of the gene was necessary to rule out this life-threatening syndrome.
CONCLUSION
This rare, complex rearrangement of multiple exons and deletions in causing an isolated aniridia phenotype is probably the first reported case. The patient was managed by a multidisciplinary team and the guardians were counseled regarding the prognosis and complications.
Topics: Female; Humans; Child; Paired Box Transcription Factors; PAX6 Transcription Factor; Homeodomain Proteins; Repressor Proteins; Aniridia; Exons; Wilms Tumor; Kidney Neoplasms; Cataract; Eye Proteins
PubMed: 36440799
DOI: 10.1080/13816810.2022.2144904 -
Ophthalmology. Retina Jun 2019Investigate in vivo cone photoreceptor structure in familial aniridia caused by deletion in the PAX6 gene to elucidate the complexity of between-individual variation in...
PURPOSE
Investigate in vivo cone photoreceptor structure in familial aniridia caused by deletion in the PAX6 gene to elucidate the complexity of between-individual variation in retinal phenotype.
DESIGN
Descriptive case-control study.
PARTICIPANTS
Eight persons with congenital aniridia (40-66 yrs) from 1 family and 33 normal control participants (14-69 yrs), including 7 unaffected family members (14-53 yrs).
METHODS
DNA was isolated from saliva samples and used in polymerase chain reaction analysis to amplify and sequence exons and intron or exon junctions of the PAX6 gene. High-resolution retinal images were acquired with OCT and adaptive optics scanning light ophthalmoscopy. Cone density (CD; in cones per square millimeter) and mosaic regularity were estimated along nasal-temporal meridians within the central 0° to 5° eccentricity. Horizontal spectral-domain OCT line scans were segmented to analyze the severity of foveal hypoplasia (FH) and to measure retinal layer thicknesses.
MAIN OUTCOMES AND MEASURES
Within-family variability in macular retinal layer thicknesses, cone photoreceptor density, and mosaic regularity in aniridia compared with normal control participants.
RESULTS
DNA sequencing revealed a known PAX6 mutation (IV2-2delA). Those with aniridia showed variable iris phenotype ranging from almost normal appearance to no iris. Four participants with aniridia demonstrated FH grade 2, 2 demonstrated grade 3 FH, and 1 demonstrated grade 4 FH. Visual acuity ranged from 0.20 to 0.86 logarithm of the minimum angle of resolution. Adaptive optics scanning light ophthalmoscopy images were acquired from 5 family members with aniridia. Foveal CD varied between 19 899 and 55 128 cones/mm with overlap between the foveal hypoplasia grades. Cone density was 3 standard deviations (SDs) or more less than the normal mean within 0.5°, 2 SDs less than the normal mean at 0.5° to 4°, and more than 1 SD less than the normal mean at 5° retinal eccentricity.
CONCLUSIONS
The results showed considerable variability in foveal development within a family carrying the same PAX6 mutation. This, together with the structural and functional variability within each grade of foveal hypoplasia, underlines the importance of advancing knowledge about retinal cellular phenotype in aniridia.
Topics: Adolescent; Adult; Aged; Aniridia; Case-Control Studies; Cell Count; DNA; DNA Mutational Analysis; Female; Gene Deletion; Genotype; Humans; Male; Middle Aged; Ophthalmoscopy; PAX6 Transcription Factor; Phenotype; Retinal Cone Photoreceptor Cells; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 31174676
DOI: 10.1016/j.oret.2019.01.020 -
BMC Ophthalmology May 2022Evaluate outcomes and identify prognostic factors in congenital aniridia.
BACKGROUND
Evaluate outcomes and identify prognostic factors in congenital aniridia.
METHODS
Retrospective interventional case series of patients with congenital aniridia treated between 2012-2020. Ocular examination and surgical details were collected. Surgical failure was defined as disease progression or need for additional surgery for same/related indication. Kaplan-Meier survival curves, Wilcoxon test, and univariate and multivariate linear regression analyses were performed.
RESULTS
Ninety-four patients with congenital aniridia presented at median 19.0 years. Two-thirds of patients underwent ≥ 1intraocular surgery, with average of 1.7 ± 2.3 surgeries/eye. At final follow-up (median 4.0 years), 45% of eyes had undergone lensectomy. Aphakic eyes showed worse visual acuity (VA) than phakic or pseudophakic eyes. Glaucoma affected 52% of eyes, of which half required IOP-lowering surgery. Glaucoma drainage devices showed the highest success rate (71%) at 14.2 ± 15.4 years of follow-up. Keratopathy affected 65% of eyes and one-third underwent corneal surgery. Keratoprosthesis had the longest survival rates at 10-years (64% with 95% CI [32,84]). LogMAR VA at presentation and final follow-up were not statistically different. Half of patients were legally blind at final follow-up. Final VA was associated with presenting VA, glaucoma diagnosis, and cataract or keratopathy at presentation. Penetrating keratoplasty and keratoprosthesis implantation correlated with worse BCVA.
CONCLUSIONS
Most aniridic patients in this large US-based cohort underwent at least 1 intraocular surgery. Cataract, glaucoma, and keratopathy were associated with worse VA and are important prognostic factors to consider when managing congenital aniridia.
Topics: Aniridia; Cataract; Cornea; Corneal Diseases; Follow-Up Studies; Glaucoma; Glaucoma Drainage Implants; Humans; Intraocular Pressure; Prognosis; Retrospective Studies; Treatment Outcome; Vision Disorders
PubMed: 35614435
DOI: 10.1186/s12886-022-02460-5 -
BMC Ophthalmology Jul 2017This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens...
BACKGROUND
This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation.
METHODS
In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery.
RESULTS
A single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively (p = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively (p = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery.
CONCLUSIONS
Treatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients.
TRIAL REGISTRATION
ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).
Topics: Adolescent; Adult; Aniridia; Cataract; Child; Child, Preschool; Female; Humans; Lenses, Intraocular; Male; Middle Aged; Phacoemulsification; Prospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 28676040
DOI: 10.1186/s12886-017-0503-6 -
Korean Journal of Ophthalmology : KJO Dec 2023
Topics: Humans; Cataract Extraction; Eye Injuries; Cataract; Wounds, Nonpenetrating; Aniridia; Iris
PubMed: 37899280
DOI: 10.3341/kjo.2023.0091 -
Molecular Genetics & Genomic Medicine Apr 2020Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor,...
BACKGROUND
Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. The WT1 is vital for the development of kidneys, ovaries in females, and testes in males. WT1 gene mutations result in a WT1 protein with a decreased ability to bind to DNA, leading to uncontrolled growth, and cell division in the kidney which permits the development of Wilms tumor. A congenital ureteral valve is an exceedingly rare cause of obstructive uropathy.
RESULTS
A renal and bladder ultrasound demonstrated a renal cyst. A voiding cystourethrogram revealed grade 3 vesicoureteral reflux, and a MAG3 renal scan showed ureteropelvic junction obstruction and hydronephrosis. A ureteral stent was inserted at 3 months of age after which the renal cyst resolved. The patient was urinary tract infection-free at 27 months of age. Genetic testing confirmed a heterozygous alteration in PAX6 (c.495delG, p.Thr166Leufs*41) and no abnormalities of WT1, excluding WAGR syndrome.
CONCLUSION
The genitourinary risks potentially associated with aniridia necessitate prompt genetic analysis to evaluate for WAGR syndrome.
Topics: Aniridia; Child, Preschool; Diagnosis, Differential; Female; Genetic Testing; Humans; Kidney; Mutation; PAX6 Transcription Factor; Syndrome; Urethra; Urethral Obstruction
PubMed: 32056389
DOI: 10.1002/mgg3.1183 -
Current Eye Research Oct 2020: To evaluate the choroidal thickness (CT) in children with congenital aniridia in comparison with age-matched controls. : This was a cross-sectional, observational... (Comparative Study)
Comparative Study
: To evaluate the choroidal thickness (CT) in children with congenital aniridia in comparison with age-matched controls. : This was a cross-sectional, observational study that included 64 eyes of 32 children with congenital aniridia (aged 5-12 years) and 80 eyes of 40 healthy subjects who were age-matched. In all subjects, subfoveal choroidal thickness (SFCT) was assessed at 750-μm intervals from the fovea to 1.5 mm in the temporal and nasal directions with spectral-domain optical coherence tomography (SD-OCT). : The mean SFCT was 207.67 ± 30.99 µm in the aniridic eyes. This SFCT was significantly thinner than that in control eyes (288.55 ± 30.06 µm) ( < .001). The SFCTs at 1.5 mm and 0.75 mm intervals in the temporal and nasal directions from the fovea were also significantly thinner in eyes with aniridia than control eyes ( < .001).There was a significant negative correlation between the SFCT and axial length in eyes with aniridia (B = -10.60, 95%CI = -19.31~-1.89, = .017). : The subfoveal and parafoveal CTs were significantly thinner in eyes with congenital aniridia than in control eyes. These choroidal changes could open up a new way for the research related to the pathophysiology of congenital aniridia.
Topics: Adolescent; Aniridia; Child; Child, Preschool; Choroid; Cross-Sectional Studies; Female; Humans; Male; Organ Size; Tomography, Optical Coherence
PubMed: 32141346
DOI: 10.1080/02713683.2020.1736309 -
The International Journal of... Mar 2005Heterozygosity for PAX6 deficiency (PAX6+/-) results in aniridia. Corneal changes in aniridia-related keratopathy (ARK) include corneal vascular pannus formation,... (Review)
Review
Heterozygosity for PAX6 deficiency (PAX6+/-) results in aniridia. Corneal changes in aniridia-related keratopathy (ARK) include corneal vascular pannus formation, conjunctival invasion of the corneal surface, corneal epithelial erosions and epithelial abnormalities, which eventually result in corneal opacity and contribute to visual loss. Corneal changes in aniridia have been attributed to congenital deficiency of corneal limbal stem cells. The aim of this paper is to review the potential mechanisms that may underlie the pathogenesis of aniridia related keratopathy. Current evidence, based on clinical observations and an animal model of aniridia suggest that the proliferative potential of the corneal limbal stem cells may not primarily be impaired. The corneal changes in aniridia may be related to an abnormality within the limbal stem cell niche. The mechanisms underlying progressive corneal pathology in aniridia appear multi-factorial and include: (1) abnormal corneal healing responses secondary to anomalous extracellular matrix metabolism; (2) abnormal corneal epithelial differentiation leading to fragility of epithelial cells; (3) reduction in cell adhesion molecules in the PAX6 heterozygous state, rendering the cells susceptible to natural shearing forces; and (4) conjunctival and corneal changes leading to the presence of cells derived from conjunctiva on the corneal surface.
Topics: Animals; Aniridia; Cornea; Corneal Diseases; Disease Models, Animal; Eye Proteins; Homeodomain Proteins; Humans; Limbus Corneae; Mice; Mice, Knockout; Models, Biological; PAX6 Transcription Factor; Paired Box Transcription Factors; Repressor Proteins; Stem Cells
PubMed: 15618012
DOI: 10.1016/j.biocel.2004.09.002