Table 3.

Clinical features of five RVCL-S TREX1 mutation carriers reported in literature but not included in the present study

Reference	DiFranscecso et al.	DiFrancesco et al.	Vodopivec et al.	Schuh et al.	Dhamija et al.
	Winkler et al.
Mutation (protein)	V235fs	T270fs	D278fs	P275fs	E285fs
Mutation carriers (n)	+	+	+	+	+
Age at diagnosis of retinopathy	?	26	38	?	?
Age at last follow-up	?	36	45	39	?
Age at death	NA	NA	45	NA	?
Survival time from onset (years)	NA	NA	7	NA	?
Major features
Retinopathy	+	+	+	+	+
Cerebral features
Focal brain features	+	+	+	+	+
Cognitive impairment	+	+	+	?	?
Psychiatric disease	+	+	?	?	?
Seizures	+	+	?	?	?
Neuroimaging evidence of white matter disease
Rim-enhancing mass lesions	+	+	+	+	+
Punctate non-enhancing and/ornodular contrast-enhancing lesions	?	?	+	+	+
Calcifications on CT	+	+	+	+	?
Other commonly found features
Liver disease	+	+	?	?	?
Kidney disease	+	+	+	+	?
Hypertension	?	+	+	+	?
Anaemia	?	?	?	?	?
Gastrointestinal bleeding	+	?	?	?	?
Migraine with or without aura	+	?	H	H	H
Raynaud’s phenomenon (mild)	?	?	?	?	?

+ The clinical feature is present.

? Unknown whether the clinical feature was present.

H = headache, which was not further classified; NA = ‘not applicable’ as the patient was still alive at the time of the report.

Cases reported by Gruver et al. (2011) and Mateen et al. (2010) are included in our own dataset (Families 9 and 1, respectively).