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

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, wi

SUBMITTER: da Palma MM 

PROVIDER: S-EPMC8254011 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature