Short Communication
Volume 10 Issue 8 - 2018
Presymptomatic Diagnosis in Retinal Vasculopathy with Cerebral Leukodystrophy
Adriana Ochoa-Morales1, Yaneth Rodríguez-Agudelo2, Mireya Chávez-Oliveros2, María Georgina Arteaga-Alcaraz3, Alejandra Camacho-Molina1, José Flores4, Adrián Martínez-Ruiz5 , Nancy Monroy Jaramillo1*
1Department of Neurogenetics. National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez. Mexico City, Mexico
2Department of Neuropsychology. National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez. Mexico City, Mexico
3State Research Coordinator, Mexican Institute of Social Security, Pachuca Hidalgo, Mexico
4Clinical Laboratory of Neurodegenerative Diseases. National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez. Mexico City, Mexico
5Department of Demographics, Epidemiology and Social Determinants, National Institute of Geriatrics of Mexico. Mexico City, Mexico
*Corresponding Author: Nancy Monroy Jaramillo, Department of Neurogenetics, National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez, Mexico City, Mexico.
Received: May 29, 2018; Published: July 27, 2018
Citation: Nancy Monroy Jaramillo., et al. “Presymptomatic Diagnosis in Retinal Vasculopathy with Cerebral Leukodystrophy”. EC Neurology 10.8 (2018): 771-776.
Abstract
Genetic counselling and pre-symptomatic diagnosis (PD) have been scarcely investigated in monogenic hereditary cerebral small ves sel diseases, including retinal vasculopathy with cerebral leukodystrophy (RVCL). We describe the sociodemographic characteristics, motivations and the recent outcome of PD in subjects at risk of RVCL in four-generations of a large genealogy where three related-clinical cases were previously confirmed by molecular tests. Participants were studied based on three strategies: screening for TREX1 gene mutation, a health education session, and genealogy study of the families involved. A multidisciplinary team participated in the PD program, including neuro-geneticists, neurologist, social workers, psychiatrists and neuropsychologists. Only 11 related-subjects requested for a PD of RVCL. The distribution of gender in the participants was equal, six participants had not a stable relationship, and the remaining five already had offspring and partner. Participants in the PD were of similar sociocultural level. After neuropsychological testing and psychiatric interview, only 8 out of 11 people were given the results, six individuals were positive for the mutation and two negatives. The remaining three individuals were referred for psychiatric attention due to symptoms of depression and anxiety. After having improved from his depressive symptoms, one of these subjects received his positive genetic result. Some months later, another asymptomatic relative visited us to request her result; but she did not come back. The presence of consanguinity in two marriages raises new ethical dilemmas for geneticists.
Three subjects dropped-out after the first step of the procedure in this study, which is in agreement with the percentage reported for similar disorders. These initial data in familial RVCL show that PD is requested and that there is high dropout rate. The main motivation to ask for PD in RVCL was to plan their future based on their genetic information. Based on our experience, we followed a multistep procedure for genetic counselling and PD for RVCL in order to obtain minimal harmful consequences of genetic testing and a high psychological well-being after the PD process.
Keywords: Retinal Vasculopathy with Cerebral Leukodystrophy; Pre-Symptomatic Diagnosis; Genetic Counselling; TREX1 Gene Mutations
Copyright: © 2018 Nancy Monroy Jaramillo., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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