De Boer I, Van den Maagdenberg AMJM, Terwindt GM; Monroy-Jaramillo N, Cerón A, Córdoba-Lanús E, Rivas V, Ochoa-Morales A, Arteaga-Alcaraz MG, Nocedal-Rustrian FC, Gallegos C, Alonso-Vilatela ME, Corona T, Flores J

Language: English
References: 7
Page: 141-142
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Dear Editor,

Recently, Monroy-Jaramillo et al. described a new family with a disorder now known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S). RVCL-S is a monogenetic small vessel disease caused by C-terminal frameshift mutations in TREX1. The auteurs confirm phenotypic variability in RVCL-S but inaccurately claim a large number of pre-manifest mutation carriers. In general, RVCL-S is often underdiagnosed as not all necessary diagnostic tests are performed. In a large study with 78 patients from 11 unrelated families, neuroimaging reveals white matter lesions with or without nodular enhancement (97%), rim-enhancing mass lesions (84%), and calcifications (52%).

REFERENCES

1. Monroy-Jaramillo N, Cerón A, León E, et al. Phenotypic variability in a Mexican mestizo family with retinal vasculopathy with cerebral leukodystrophy and TREX1 mutation p.V235Gfs*6. Rev Invest Clin. 2018;70:68-75.

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

3. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068-70.

4. Pelzer N, Hoogeveen ES, Haan J, et al. Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease. J Intern Med. 2018; [Epub ahead of print].

5. 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.

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

7. 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.