دورية أكاديمية
أعرض في EDS

Congenital Aniridia and Ocular motility.

التفاصيل البيبلوغرافية
العنوان: Congenital Aniridia and Ocular motility.
المؤلفون: Alafaleq M; From the Ophthalmology Department and Centre for Rare Ophthalmological Diseases OPHTARA, Necker Enfants-malades University Hospital, AP-HP, University Paris Cité (M.A., D.B.-G.), Paris, France; Ophthalmology Department, Imam Abdulrahman Bin Faisal University, King Fahd hospital of the university, (M.A.), Dammam, Saudi Arabia. Electronic address: maalafaleq@iau.edu.sa., Sordello L; Faculté de médecine, Université de Paris cité (L.S.), Paris, France and., Bremond-Gignac D; From the Ophthalmology Department and Centre for Rare Ophthalmological Diseases OPHTARA, Necker Enfants-malades University Hospital, AP-HP, University Paris Cité (M.A., D.B.-G.), Paris, France; INSERM, UMRS1138, Team 17, Université Sorbonne Paris Cité, Centre de Recherche des Cordeliers (D.B.-G.), Paris, France. Electronic address: dominique.bremond@aphp.fr.
المصدر: American journal of ophthalmology [Am J Ophthalmol] 2023 Mar; Vol. 247, pp. 145-151. Date of Electronic Publication: 2022 Nov 11.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
أسماء مطبوعة: Publication: 1999- : New York, NY : Elsevier Science
Original Publication: [Chicago, etc., Ophthalmic Pub. Co., etc.]
مواضيع طبية MeSH: Esotropia* , Exotropia* , Aniridia* , Nystagmus, Pathologic* , Cataract*/congenital, Male ; Female ; Humans ; Child ; Infant ; PAX6 Transcription Factor/genetics ; Paired Box Transcription Factors/genetics ; Prospective Studies ; Cohort Studies
مستخلص: Purpose: To study the frequency and types of strabismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts.
Design: Prospective, single-center cohort study.
Methods: A review was conducted of 379 medical records of congenital aniridia patients who had a follow-up at the Necker-Enfants malades University Hospital between 2006 and 2022; the target age was between 12 months and 30 years. Ophthalmologic and orthoptic assessments according to age were performed. Strabismus was further analyzed according to the type of aniridia, foveal hypoplasia, and laterality of congenital cataract.
Results: Strabismus was diagnosed in 150 patients; 73 were included in the study (28 males [38%] and 45 females [62%]), with a mean age of 11.02 years. The mean follow-up was 24 months. Thirty-six (49.3%) presented with familial aniridia, and 37 (50.7%) presented with sporadic aniridia. Thirty-six (49.3%) were diagnosed with esotropia, 37 (50.7%) had exotropia. Nystagmus was detected in 70 patients (96%). Thirty-nine (53.4%) suffered from congenital cataract, 10 unilateral (25.7%) and 29 bilateral (74.3%). Foveal hypoplasia was found in 73 cases (100%); esotropia was predominant in all grades. PAX6 mutation was found in 56 patients (77%).
Conclusion: Strabismus is one of the clinical signs of congenital aniridia. The laterality of congenital cataracts seems to affect the type of strabismus. The grade of foveal hypoplasia has little impact on strabismus but is prevalent for nystagmus. Foveal hypoplasia affects optical focus, which is essential for binocularity; this could explain the poor binocular adjustment leading to strabismus without exotropia or esotropia predominance.
(Copyright © 2022 Elsevier Inc. All rights reserved.)
فهرسة مساهمة: Keywords: Aniridia; Congenital cataract; Foveal hypoplasia; Nystagmus; Ocular motility; Pax6; Strabismus
المشرفين على المادة: 0 (PAX6 Transcription Factor)
0 (Paired Box Transcription Factors)
تواريخ الأحداث: Date Created: 20221114 Date Completed: 20230227 Latest Revision: 20230311
رمز التحديث: 20230312
DOI: 10.1016/j.ajo.2022.11.003
PMID: 36375586
قاعدة البيانات: MEDLINE
الوصف
تدمد:1879-1891
DOI:10.1016/j.ajo.2022.11.003