Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.

dc.contributor.author

da Palma, Mariana Matioli

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Igelman, Austin D

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Ku, Cristy

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Burr, Amanda

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You, Jia Yue

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Place, Emily M

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Wang, Nan-Kai

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Oh, Jin Kyun

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Branham, Kari E

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Zhang, Xinxin

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Ahn, Jeeyun

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Gorin, Michael B

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Lam, Byron L

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Ronquillo, Cecinio C

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Bernstein, Paul S

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Nagiel, Aaron

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Huckfeldt, Rachel

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Cabrera, Michelle T

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Kelly, John P

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Bakall, Benjamin

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Iannaccone, Alessandro

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Hufnagel, Robert B

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Zein, Wadih M

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Koenekoop, Robert K

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Birch, David G

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Yang, Paul

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Fahim, Abigail T

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Pennesi, Mark E

dc.date.accessioned

2021-10-01T18:23:28Z

dc.date.available

2021-10-01T18:23:28Z

dc.date.issued

2021-06

dc.date.updated

2021-10-01T18:23:27Z

dc.description.abstract

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.
dc.identifier

2776416

dc.identifier.issn

0146-0404

dc.identifier.issn

1552-5783

dc.identifier.uri

https://hdl.handle.net/10161/23891

dc.language

eng

dc.publisher

Association for Research in Vision and Ophthalmology (ARVO)

dc.relation.ispartof

Investigative ophthalmology & visual science

dc.relation.isversionof

10.1167/iovs.62.7.27

dc.subject

Alagille syndrome

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retinal dystrophies

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jaundice

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cholestasis

dc.title

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.

dc.type

Journal article

duke.contributor.orcid

Iannaccone, Alessandro|0000-0001-5737-8424

pubs.begin-page

27

pubs.issue

7

pubs.organisational-group

School of Medicine

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Ophthalmology, Vitreoretinal Diseases & Surgery

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Duke

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Ophthalmology

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Clinical Science Departments

pubs.publication-status

Published

pubs.volume

62

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