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Revista de investigación clínica

On-line version ISSN 2564-8896Print version ISSN 0034-8376

Rev. invest. clín. vol.71 n.2 Ciudad de México Mar./Apr. 2019  Epub Apr 12, 2021 

Letter to the Editor

Letter to the Editor

Nancy Monroy-Jaramillo1 

Aurelio Cerón2 

Elizabeth León2 

Verónica Rivas3 

Adriana Ochoa-Morales1 

María Georgina Arteaga-Alcaraz4 

Fausto Carlos Nocedal-Rustrian5 

Cecilia Gallegos6 

María Elisa Alonso-Vilatela1 

Teresa Corona3 

José Flores3  * 

1Department of Neurogenetics, Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez”, Mexico City

2Department of Neurology, Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez”, Mexico City

3Department of Experimental Laboratory of Neurodegenerative Diseases, Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez”, Mexico City

4State Research Coordinator, Mexican Social Security Institute, Pachuca, Hgo

5Regional Hospital #25 “Ignacio Zaragoza”, Mexican Social Security Institute, Mexico City

6Department of Pathology, Hospital Ángeles del Pedregal, Mexico City, Mexico

Dear Editor,

We thank de Boer et al. for their valuable comments to our article and for drawing attention to the early manifestations and pre-manifest subjects in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)1. In our article, we reported phenotypic variability in three related cases and analyzed their large genealogy. The genetic testing identified 15 additional TREX1 gene mutation carriers, who in the neurological evaluation conducted at that time did not show evident clinical symptoms of RVCL-S, including Raynaud’s phenomenon (authors’ Fig. 1). The mean age of these pre-manifest relatives was 27.2±7.0 years (median = 25; range = 18-40 years, and 60% aged 18-27 years) thus, most of them had not reached the typical age of onset. Due to financial constraints, no neuroimaging or neuro-ophthalmological clinical studies were performed; therefore, we could not ascertain the absence of vascular retinopathy or subclinical brain signs in some of the older pre-manifest carriers. Vascular retinopathy in RVCL-S becomes apparent in the fourth or fifth decade of life, soon followed by clinical manifestations of progressive focal and global brain disease1, and according to Stam et al., the mean age at diagnosis is 42.9±8.3 years2. Regarding the follow-up of pre-manifest carriers, we agree with de Boer et al., and medical care was offered to all of them at our institution. Since a brain biopsy should only be considered in cases with uncertain imaging findings and negative family history, the molecular test is definitely the gold standard for RVCL-S diagnosis. Finally, in relation to withholding a diagnosis to pre-manifest mutation carriers, the pre-symptomatic diagnosis was offered to at-risk persons, although only 11 relatives accepted. Until now, merely one out of three pre-manifest carriers returned to our hospital to receive his genetic results; in the remaining carriers, delivery of their results was postponed due to depression, highlighting that few people wish to know their genetic status. Since this is a personal decision, we considered ethical to respect the subjects’ autonomy, and their right to not to know3.


1. Hardy TA, Young S, Sy JS, et al. Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S):a role for neuroinflammation?J Neurol Neurosurg Psychiatry. 2018;89:434-5. [ Links ]

2. Stam AH, Kothari PH, Shaikh A, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. 2016;139:2909-22. [ Links ]

3. Ochoa-Morales A, Rodríguez-Agudelo Y, Chávez-Oliveros M, et al. Presymptomatic diagnosis in retinal vasculopathy with cerebral leukodystrophy. EC Neurol. 2018;10:771-6. [ Links ]

Received: February 21, 2019; Accepted: February 22, 2019

* Corresponding author: José Flores Experimental Laboratory of Neurodegenerative Diseases Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez” Mexico City, Mexico E-mail:

Creative Commons License Revista de Investigación Clínica. Published by Permanyer. This is an open ccess article under the CC BY-NC-ND license