High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Abstract Background Being a newly defined disease, RVCL-S is underrecognized by clinicians globally. It is an autosomal dominantly inherited small vessel disease caused by the heterozygous C-terminal frameshift mutation in TREX1 gene. RVCL-S is featured by cerebral dysfunction, retinopathy, and vasc...

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Bibliographic Details
Main Authors: Nina Xie, Qiying Sun, Jinxia Yang, Yangjie Zhou, Hongwei Xu, Lin Zhou, Yafang Zhou
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary cerebral small vessel disease
Clinical neurology
Neurogenetics
Neuro-ophthalmology
Neuro-radiology
Online Access:https://doi.org/10.1186/s13023-021-01712-9

Internet

https://doi.org/10.1186/s13023-021-01712-9

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