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

doi:10.1167/iovs.62.7.27

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

Investigative ophthalmology & visual science - 1 Jun 2021

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alagille Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Fluorescein Angiography

Share to Jagged-1 Protein

Share to Medical Records

Share to Optic Disk

Share to Optical Imaging

Share to Visual Field Tests

Source

Open in PubMed Open full text

Identifiers

PMID: 34185059
DOI: 10.1167/iovs.62.7.27
PMCID: PMC8254011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.PMID 34185059Read ↗

The genetics and ocular findings of Alagille syndrome.Semantic proximity Read ↗

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic AspectsSemantic proximity Read ↗

[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].Semantic proximity Read ↗

Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.Semantic proximity Read ↗

Alagille syndrome.Semantic proximity Read ↗

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.Semantic proximity Read ↗

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.Semantic proximity Read ↗

[Genetic diseases of the eye].Semantic proximity Read ↗

The genetics of congenital aniridia-a guide for the ophthalmologist.Semantic proximity Read ↗

Alagille syndrome: an overview.Semantic proximity Read ↗

Congenital Aniridia: Clinic, Genetics, Therapeutics, and PrognosisSemantic proximity Read ↗

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.