دورية أكاديمية
Aniridia: a comparative overview.
| العنوان: | Aniridia: a comparative overview. |
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| المؤلفون: | Schanilec P; From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 'Retrospective Study of Aniridia.' paula.schanilec@gmail.com., Biernacki R; From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 'Retrospective Study of Aniridia.' paula.schanilec@gmail.com. |
| المصدر: | The American orthoptic journal [Am Orthopt J] 2014; Vol. 64, pp. 98-104. |
| نوع المنشور: | Comparative Study; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: University Of Wisconsin Press For The American Orthopic Council Country of Publication: United States NLM ID: 0370520 Publication Model: Print Cited Medium: Print ISSN: 0065-955X (Print) Linking ISSN: 0065955X NLM ISO Abbreviation: Am Orthopt J Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Madison Wi : University Of Wisconsin Press For The American Orthopic Council Original Publication: Rochester, Minn., American Academy of Ophthalmology and Otolaryngology. |
| مواضيع طبية MeSH: | Aniridia*/diagnosis , Aniridia*/epidemiology , Aniridia*/genetics, Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Adolescent ; Adult ; Aged ; Cataract/epidemiology ; Child ; Child, Preschool ; Genetic Predisposition to Disease/epidemiology ; Genetic Predisposition to Disease/genetics ; Humans ; Incidence ; Infant ; Middle Aged ; Nystagmus, Pathologic/epidemiology ; PAX6 Transcription Factor ; Prevalence ; Retrospective Studies ; Young Adult |
| مستخلص: | 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. (© 2014 Board of regents of the University of Wisconsin System, American Orthoptic Journal, Volume 64, 2014, ISSN 0065-955X, E-ISSN 1553-4448.) |
| فهرسة مساهمة: | Keywords: PAX6 gene; aniridia; corneal disease; glaucoma; nystagmus; retina |
| المشرفين على المادة: | 0 (Eye Proteins) 0 (Homeodomain Proteins) 0 (PAX6 Transcription Factor) 0 (PAX6 protein, human) 0 (Paired Box Transcription Factors) 0 (Repressor Proteins) |
| تواريخ الأحداث: | Date Created: 20141015 Date Completed: 20150310 Latest Revision: 20161125 |
| رمز التحديث: | 20240628 |
| DOI: | 10.3368/aoj.64.1.98 |
| PMID: | 25313118 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 0065-955X |
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| DOI: | 10.3368/aoj.64.1.98 |