دورية أكاديمية
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
| العنوان: | Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. |
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| المؤلفون: | da Palma, Mariana Matioli, Igelman, Austin D, Ku, Cristy, Burr, Amanda, You, Jia Yue, Place, Emily M, Wang, Nan-Kai, Oh, Jin Kyun, Branham, Kari E, Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael B, Lam, Byron L, Ronquillo, Cecinio C, Bernstein, Paul S, Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle T, Kelly, John P, Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert B, Zein, Wadih M, Koenekoop, Robert K, Birch, David G, Yang, Paul, Fahim, Abigail T, Pennesi, Mark E |
| بيانات النشر: | Association for Research in Vision and Ophthalmology (ARVO) |
| سنة النشر: | 2021 |
| المجموعة: | Duke University Libraries: DukeSpace |
| مصطلحات موضوعية: | Alagille syndrome, retinal dystrophies, jaundice, cholestasis |
| الوصف: | Purpose The purpose of this study was to characterize the phenotypic spectrum of ophthalmic findings in patients with Alagille syndrome. Methods We conducted a retrospective, observational, multicenter, study on 46 eyes of 23 subjects with Alagille syndrome. We reviewed systemic and ophthalmologic data extracted from medical records, color fundus photography, fundus autofluorescence, optical coherence tomography, visual fields, electrophysiological assessments, and molecular genetic findings. Results Cardiovascular abnormalities were found in 83% of all cases (of those, 74% had cardiac murmur), whereas 61% had a positive history of hepatobiliary issues, and musculoskeletal anomalies were present in 61% of all patients. Dysmorphic facies were present in 16 patients, with a broad forehead being the most frequent feature. Ocular symptoms were found in 91%, with peripheral vision loss being the most frequent complaint. Median (range) Snellen visual acuity of all eyes was 20/25 (20/20 to hand motion [HM]). Anterior segment abnormalities were present in 74% of the patients; of those, posterior embryotoxon was the most frequent finding. Abnormalities of the optic disc were found in 52%, and peripheral retinal abnormalities were the most frequent ocular finding in this series, found in 96% of all patients. Fifteen JAG1 mutations were identified in 16 individuals; of those, 6 were novel. Conclusions This study reports a cohort of patients with Alagille syndrome in which peripheral chorioretinal changes were more frequent than posterior embryotoxon, the most frequent ocular finding according to a number of previous studies. We propose that these peripheral chorioretinal changes are a new hallmark to help diagnose this syndrome. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0146-0404 1552-5783 |
| العلاقة: | Investigative ophthalmology & visual science; 2776416; https://hdl.handle.net/10161/23891Test |
| الإتاحة: | https://hdl.handle.net/10161/23891Test |
| رقم الانضمام: | edsbas.4D4519E2 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 01460404 15525783 |
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