High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Xie, Nina; Sun, Qiying; Yang, Jinxia; Zhou, Yangjie; Xu, Hongwei; Zhou, Lin; Zhou, Yafang

doi:10.1186/s13023-021-01712-9

Orphanet Journal of Rare Diseases

Table 3 Comparison between RVCL-S pedigrees and individual patients

From: High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)

Origin	American	European	Chinese	Jewish	Dutch	German	Australian	Italian	Caucasian	Mexican	Japanese	Chinese
Origin	American	American	American	American	Dutch	German	Australian	Australian	Caucasian	Mexican	Japanese	Chinese
Families or patients	4 patients	1 family	1 family	1 patient	3 families	1 family	1 family	1 family	1 family	1 family	1 family	1 family
Families or patients	1family	1 family	1 family	1 patient	3 families	1 family	1 family	1 family	2 patients	1 family	2 patients	1 family
Mutation(s)	D278Efs*48	V235fs	T249fs	V235fs	V235fs	T236fs	R284fs	V235fs	V235fs	V235fs	T249fs	V235fs
	V235fs				L287fs				T270fs		V235fs
	E285*								P275Qfs*2
	T249fs								P275Qfs*2
Clinical manifestations
Focal neurological deficits	+	+	+	+	+	+	+	+	+	+	+	+
Cognitive decline	+	+	+	+	+	+	+	+	+			+
Seizures		+		+	+		+		+			+
Migraine		+	+	+	+		+		+	+
Psychiatric symptoms		+	+	+	+	+	+		+
Retinopathy	+	+	+	+	+	+	+	+	+	+	+	+
Liver abnormality	+	+		+	+	+	+	+	+
Nephropathy	+	+	+	+	+	+	+		+	+	+	+
Gastrointestinal bleeding		+		+	+	+			+
Mesenteric ischemia												+
Anemia	+	+		+	+		+					+
Hypertension		+	+	+	+		+		+	+		+
Raynaud’s phenomenon		+		+	+
Subclinical hypothyroidism					+							+
Cardiomyopathy	+								+
Osteonecrosis									+
Skin lesions					+
Neuroimaging features
T2 White matter lesions	+	+	+	+	+	+	+	+	+	+	+	+
Cerebral calcification	+	+	+	+	+		+		+		+	+
Rim-like enhancement	+	+	+	+	+	+	+	+	+	+		+
Nodular enhancement		+	+	+	+	+	+	+
Abnormal MRS pattern												+
Histopathology
Cerebral vasculopathy with mild-to-moderate inflammatory infiltrate	+	+	+		+	+	+	+	+	+	+	+
Peripheral neuropathy									+
Myopathy									+
Arteriolo-nephrosclerosis	+		+						+		+
Hepatic fibrosis or nodular regenerative hyperplasia						+			+
Leucocytoclastic vasculitis and multilaminated capillary basement membranes			+					+	+
References	[2, 4, 7, 9, 10]	[4, 25]	[4, 5]	[4]	[1, 3, 26]	[4, 22]	[4, 27]	[4, 12]	[6, 8, 11]	[23]	[28,29,30]	Our report

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ISSN: 1750-1172

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