<scp><i>TREX1</i></scp>‐associated retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Tran, Tuan; Ross, Laura; Fuzzard, Dujon; Troutbeck, Robyn

doi:10.1111/ceo.13872

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…Our experience highlights the need to consider this pathology as a differential diagnosis in patients with tumefactive brain lesions, a family history of cerebral pseudotumors, and progressive visual involvement, which may help to avoid unnecessary invasive examinations. Likewise, contrary to the literature, the patient did not show clinical improvement with the use of steroids, but a decrease in the size of the pseudotumoral lesion was observed in MRI, probably due to the administration of steroids [16].…”

Section: Table 2: Diseases Related To Trex1 Gene Mutationcontrasting

confidence: 99%

Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report

Santellán-Hernández¹,

Romero-Luna²,

Ramírez-Cruz³

et al. 2022

Cureus

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TREX1 is a gene that encodes an exonuclease on the C-terminal strand at the 3 ́ end for DNA repair. Multiple syndromes associated with the alteration of this gene have been described, focusing in this case on retinal vasculopathy with cerebral leukodystrophy (RVCL). We present the case of a 44-year-old female patient with a familial history of cerebral pseudotumors. At the time of diagnosis, the patient presented weakness in the lower limbs and dysesthesias of the right body at the beginning of the clinical picture, without visual alterations or retinal changes at fundus examination. A cranial magnetic resonance imaging (MRI) study showed a pseudotumoral lesion at the inferior frontal gyrus with a report of a choline peak in spectroscopy, ring enhancement in contrasted T1 sequence, and apparent central necrosis. A molecular study shows a mutation in c2136G>A, c.799dup, and c.5312A>G related to genes expressing PDE6A, TREX1, and VCAN proteins, respectively, mutations that have not been previously reported.

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Section: Table 2: Diseases Related To Trex1 Gene Mutationcontrasting

confidence: 99%

Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report

Santellán-Hernández¹,

Romero-Luna²,

Ramírez-Cruz³

et al. 2022

Cureus

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Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Fonollosa,

Carreño,

Vitale

et al. 2024

Front. Ophthalmol.

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Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet’s disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still’s disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.

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TREX1‐associated retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Cited by 2 publications

References 7 publications

Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report

Tumor-Like Brain Lesions Associated With Variants of Uncertain Significance Compared to Previous Studies: A Case Report

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

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