Table 1.

Diagnosing and suspecting RVCL-S.

Diagnostic criterium

Demonstration of a C-terminal frameshift mutation in TREX1 to genetically confirm the diagnosis.

Main features

Vascular retinopathy

Features of focal and/or global brain dysfunction associated on MRI with

punctate T2 hyperintense white matter lesions with nodular enhancement; and/or

larger T2 hyperintense white matter mass lesions with rim-enhancement, mass effect, and surrounding edema

Family history of autosomal dominant inheritance with middle-age onset of disease manifestations.

Supportive features

On CT focal white matter calcifications and/or on MRI nonenhancing punctate T2 hyperintense white matter lesions at an age that non-specific age-related white matter hyperintensities are infrequent

Microvascular liver disease

Microvascular kidney disease

Anemia consistent with blood loss and/or chronic disease

Microscopic gastro-intestinal bleeding

Subclinical hypothyroidism

Possibly associated features

Raynaud's phenomenon (typically mild)

Migraine with or without aura

Hypertension

Adapted from Pelzer et al., 2018.⁷.