scholarly journals Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Pedro Calvão-Pires ◽  
R. Santos-Silva ◽  
F. Falcão-Reis ◽  
A. Rocha-Sousa
Keyword(s):  
Gene Expression ◽  
Visual Acuity ◽  
Prognostic Factors ◽  
Clinical Characteristics ◽  
Rare Condition ◽  
Posterior Segment ◽  
Eye Lens ◽  
Pax6 Gene ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia

Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient’s visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors.

scholarly journals Persistent iris vessels in a case of aniridia

2021 ◽  
Vol 2 (2) ◽  
Author(s):  
Rashmi Deshmukh ◽  
◽  
Madhavan Rajan ◽  
Keyword(s):  
Pax6 Gene ◽  
Peters Anomaly ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia

Congenital aniridia is caused by a mutation in the PAX6 gene [1] and is characterized by partial or complete absence of iris tissue. Apart from the hypoplasia of iris tissue, other ocular features such as foveal hypoplasia, nystagmus, aniridia-related keratopathy, Peters anomaly, Axenfeld-Rieger anomaly and glaucoma are seen in these eyes [1,2]. Cases have been reported with persistent pupillary membranes [3] and iris strands [4].

scholarly journals The specific clinical features of congenital aniridia in the childhood

2016 ◽  
Vol 11 (3) ◽  
pp. 121-129 ◽  
Author(s):  
Anna Aleksandrovna Voskresenskaya ◽  
N. A Pozdeyeva ◽  
T. A Vasil'eva ◽  
O. V Khlebnikova ◽  
R. A Zinchenko
Keyword(s):  
Visual Acuity ◽  
Children And Adolescents ◽  
Newborn Infants ◽  
Federal State ◽  
Ophthalmological Examination ◽  
State Institute ◽  
Familial Type ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
And Gender

Aim. The objective of the present study was to elucidate the specific features of the clinical picture of congenital aniridia in the children and adolescents and determine the frequency of complications of this pathology in the Russian Federation. Materials and methods. The study involved 37 children and adolescents at the age below 18 years (74 eyes) who were recruited from 37 unrelated families and diagnosed as having congenital aniridia at the Cheboksarsky branch of S.N. Fedorov Federal State Institute of Eye Microsurgery. All the children underwent the comprehensive ophthalmological examination based at this institution that included determination of the patients’ age and gender, diagnostics of keratopathy, cataract and glaucoma, measurements of foveal hypoplasia and hypoplasia of the optical nerve. In addition, visual acuity (VA) and the type of refraction were determined, gonioscopy and central keratopachymetry were performed on each patient. Results. The age of the patients varied from 2 months to 18 years (median: 3 years). The familial type of inheritance of congenital aniridia was documented in 16 patients whereas sporadic cases of this pathology were detected in 21 (56.7%) children. Microcornea and microphthalmus occurred in 4 and 2 eyes respectively. WAGR syndrome was diagnosed in 9.5% of the patients presenting with sporadic aniridia. Visual acuity was estimated at => 0.1 in 52% of the cases; it was => 0.3 in three patients. Abnormal refraction was documented in 88.3% of the children, marked hypermetropia was diagnosed in 15% of the examined eyes. The signs of aniridic keratopathy in the newborn infants and young children(aged below 3 years) were found in 64% of the cases. The youngest age at which the signs of aniridic keratopathy were apparent was 14 months. Cataract of different severity was documented in 77% of the eyes, glaucoma in 22.6%, foveal hypoplasia in 94%, and nystagmus in 86.5% of the eyes. The thickness of the central cornel region in the children at the age from 6 months to 2 years was 635+-47 microns compared with 606+-43 microns in the patients from 3 to 18 years of age. Conclusion. Congenital aniridia is a progressive panocular pathology affecting various structures of the eye and leading to the impairment of the visual function from the very early life.

scholarly journals Intraocular Foreign Bodies: Clinical Characteristics and Prognostic Factors Influencing Visual Outcome and Globe Survival in 373 Eyes

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Yang Liu ◽  
Shuang Wang ◽  
Ying Li ◽  
Qiaoyun Gong ◽  
Guanfang Su ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Prognostic Factors ◽  
Clinical Characteristics ◽  
Foreign Bodies ◽  
Vitreous Hemorrhage ◽  
Visual Outcome ◽  
Ocular Injury ◽  
Factors Influencing ◽  
Retinal Breaks ◽  
Wound Length

Aim. To describe epidemiologic and clinical characteristics and prognostic factors influencing visual outcome after intraocular foreign bodies (IOFBs) injury. Methods. Medical records of 370 patients (373 eyes) with IOFBs were reviewed to identify the factors influencing visual acuity by univariate and multivariate analyses. Results. The majority of patients (97.0%) were men, with a mean age of 38.1 years. The most common cause of ocular injury was hammering (52.6%); magnetic IOFBs occurred in 84.7% of these cases. Factors associated with poor visual outcome (defined as <1.3 logMAR) included the following: age ≥50 years (P=0.046); worse presenting visual acuity (P<0.001); complications of retinal breaks (P=0.006) and endophthalmitis (P=0.032); vitrectomy (P=0.035); and intraocular C3F8 gas tamponade (P=0.038). Excellent visual outcome (defined as ≥0.5 logMAR) was associated with age <50 years (P=0.003); better presenting visual acuity (PVA) (P<0.001); wound length <4 mm (P=0.005); absence of vitreous hemorrhage (P=0.026) and retinal breaks (P<0.001); nonvitrectomy surgery (P=0.043); and use of balanced saline (P=0.029). Conclusions. Multiple prognostic factors were identified that may predict visual outcome and globe survival after IOFBs injury. Age, initial presenting visual acuity, wound length, complications (vitreous hemorrhage, retinal breaks, and endophthalmitis), surgical approach, and intraocular tamponade were significant predictors of visual outcome.

Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia

2018 ◽  
Vol 30 (1) ◽  
pp. 58-65 ◽  
Author(s):  
Pilar Casas-Llera ◽  
Ana Siverio ◽  
Gemma Esquivel ◽  
Cristina Bautista ◽  
Jorge L Alió
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Outer Segment ◽  
Spectral Domain ◽  
Ophthalmological Examination ◽  
Optical Coherence ◽  
Corrected Visual Acuity ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Best Corrected Visual Acuity

Background: Patients with congenital aniridia usually have some degree of foveal hypoplasia, thus representing a limiting factor in the final visual acuity achieved by these patients. The purpose of this study was to analyze whether the foveal morphology assessed by spectral-domain optical coherence tomography may serve as a prognostic indicator for best-corrected visual acuity in congenital aniridia patients. Methods: Observational two-center study performed between January 2012 and March 2017 in the pediatric ophthalmology department at Vissum Alicante and Vissum Madrid, Spain. A total of 31 eyes from 19 patients with congenital aniridia were included. After a complete ophthalmological examination, a high-resolution spectral-domain optical coherence tomography with a three-dimensional scan program macular protocol was used. A morphological grading system of foveal hypoplasia was used varying from grade 1 in which there is a presence of a shallow foveal pit, extrusion of inner retinal layers, outer nuclear layer widening, and a presence of outer segment lengthening to grade 4 in which none of these processes occur. Results: No correlation between central, mid-peripheral, and peripheral macular thickness and logMAR best-corrected visual acuity was found. The presence of outer segment lengthening was associated with better best-corrected visual acuity with a median best-corrected visual acuity, 0.30 logMAR, whereas the absence of this morphologic feature was associated with poorer VA with a median best-corrected visual acuity of 0.61 logMAR (p < 0.001). Conclusion: Foveal hypoplasia morphology can predict the best-corrected visual acuity. Specifically, the morphologic optical coherence tomography feature that is related to a better best-corrected visual acuity in congenital aniridia patients is the presence of outer segment lengthening.

scholarly journals Detection of a novel PAX6 mutation in a Chinese family with multiple ocular abnormalities

2020 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Pax6 Gene ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background: Aniridia is a congenital, panocular disease affecting the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function mutations were the most common cause of aniridia .Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities, with distinct mutations at a given site within this gene leading to distinct phenotypic findings.This s tudy aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family. Methods: The proband and the proband’s brother of this family underwent comprehensive ophthalmologic examinations as well as exome sequencing, with Next Generation Sequencing being used to confirm these results. Results: A novel mutation (c.114_119delinsAATTTCC:p.Pro39fs) in the PAX6 gene was identified in subjects III-2 and III-3 in these family, and both of these subjects exhibited complete aniridia, cataracts, glaucoma, high myopia, and foveal hypoplasia. Conclusions: We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and determined that this mutation was a probable cause of various eye abnormalities in carriers.

CLINICAL CHARACTERISTICS AND RESULTS OF CATARACT SURGERY IN THE SMALL PUPIL EYE BY PHACOEMUSIFICATION

2018 ◽  
pp. 79-82
Author(s):  
Van Minh Pham ◽  
Van Nam Phan ◽  
Thi Thu Nguyen
Keyword(s):  
Visual Acuity ◽  
Cataract Surgery ◽  
Clinical Characteristics ◽  
Low Vision ◽  
Sample Selection ◽  
Posterior Chamber ◽  
Good Visual Acuity ◽  
Before And After ◽  
Grade Ii ◽  
Small Pupil

Objectives: To investigate the clinical characteristics of cataract patients with small pupils and to evaluate the result of cataract surgery on the eye have small pupils by phacotechnique. Subjects and methods: Descriptive study, prospective, uncontrolled interventions. Sample selection. The sample size of 70 patients with 70 eyes of cataracts with small pupils was treated by phaco technique and intraocular lens implant within posterior chamber. Follow up to 3 months. Results: 70 eyes, the percentage of men and women was not different from 54.2% (38 male) compared to 45.8% (32 female). The mean age was 80 ± 8.74, from 58 to 99 years. The disease was mainly found in the age group over 70 years old with over 80% (51.5%). Visual acuity before surgery was very poor under 3m CF (count finger) for 68.6% (48/70). Visual acuity over 1/10 was only a small amount with 2.8% (2 eyes). Pseudoexfoliation was the most common reason complications of mydriasis with 32/70 eyes (45.7%) and 22/70 eyes (31.4%) for age. The preoperative pupilarysizewas mostly small with 63/70 eyes (90.0%), non-dilated pupils (7/70 eyes) (10.0%). Average pupil size was 3.34 mm (2 - 4mm). Iris condition: iris atrophy 20/10 eyes (28.6%), iris synechiae 11/10 (15.7%), irregular iris muscle with 51, 4% and good iris muscle accounted for 48.6%. Grade of cataract: Grade III: 31/70 eyes (44.3%), Grade IV: 32/70 eyes (45.7%), Grade II: 5/70 eyes (7.1%) and V:2/70 eyes (2.9%). Pupil expander technique: OVD injection with 42/70 eyes (60%), using iris hook with 23/70 eyes (32.9%). Pupillary size before and after intervention has changed from 3.7mm to 4.48mm. Conclusions: Iris expander techniques have been shown to have good dilated pupils: 60.0% OVD injection, iris hook was 32.9%, other methods 7.1% One-week visibility of good visual acuity was higher than that of postoperative one day (12.2%) and increased at 1 month and 3 months (20.0%). Very good visual acuity was not available and low vision group was 1.4% after 3 months. Key words: cataract surgery; phacoemusification, small pupil

scholarly journals Clinical Characteristics and Prognostic Factors of Early-Onset Pancreatic Neuroendocrine Tumors

2021 ◽  
Vol 28 ◽  
pp. 107327482098682
Author(s):  
Min Shi ◽  
Biao Zhou
Keyword(s):  
Prognostic Factors ◽  
Neuroendocrine Tumors ◽  
Early Onset ◽  
Older Patients ◽  
Clinical Characteristics ◽  
Clinicopathological Characteristics ◽  
Pancreatic Neuroendocrine Tumors ◽  
Chi Square ◽  
Younger Patients ◽  
Significant Difference

Background: The incidence of pancreatic neuroendocrine tumors (PNETs) has increased significantly. The purpose of this study was to analyze the clinical characteristics and prognosis of patients under 50 years old. Methods: Patients with PNETs recorded in the Surveillance, Epidemiology, and End Results (SEER) database from 2004 to 2015 were analyzed. The clinical characteristics were analyzed by Chi-square test. The Kaplan-Meier method was used to estimate overall survival (OS). Multivariate Cox proportional risk regression analysis was used to determine independent prognostic factors. Results: 2,303 patients included, of which 547 (23.8%) patients were younger than 50 years old. The number of younger patients has increased steadily, while the proportion in total PNETs decreased recently. Compared with older group, the proportion of the Black, grade I/II, and surgery were higher in early-onset PNETs. Liver was the most frequent metastatic site. There was no significant difference in the incidence of different metastatic sites between younger and older PNETs patients, while younger patients had better OS (P < 0.05). Grade, N stage, M stage, and surgery were independent prognostic factors for OS in early-onset PNETs. Conclusions: Younger patients have unique clinicopathological characteristics compared with older patients in PNETs. Better OS was observed in younger patients which might due to the higher proportion of well-differentiated tumor and surgery than older patients.

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