Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation

CHARGE syndrome (CS) is a rare genetic disease causing multiple anatomical defects and sensory impairment. Visual function is usually reported by caregivers and has never been described with a structured behavioral assessment. Our primary objective was to describe ocular abnormalities, visual functi...

Full description

Bibliographic Details
Main Authors: Roberta Onesimo, Daniela Ricci, Cristiana Agazzi, Simona Leone, Maria Petrianni, Lorenzo Orazi, Filippo Amore, Annabella Salerni, Chiara Leoni, Daniela Chieffo, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
CHARGE syndrome
coloboma
visual function
<i>CHD7</i>
genotype–ocular-phenotype
VISIOCHARGE
Online Access:https://www.mdpi.com/2073-4425/12/7/972

Similar Items

Similar Items