Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel <i>TREX1</i> Mutation

Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel <i>TREX1</i> Mutation

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported...

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Bibliographic Details
Main Authors: Marta Świerczyńska, Agnieszka Tronina, Erita Filipek
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Journal of Personalized Medicine
Subjects:
Aicardi–Goutières syndrome
<i>TREX1</i>
congenital glaucoma
interferon alpha
type 1 interferonopathies
Online Access:https://www.mdpi.com/2075-4426/13/11/1609

Internet

https://www.mdpi.com/2075-4426/13/11/1609

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