Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Retinal vasculopathy and cerebral leukoencephalopathy is an autosomal dominant disorder caused by mutations of the TREX1 gene. It is a vasculopathy affecting small vessels. This disorder is not limited to cerebroretinal vessels but can also manifest systemically with renal dysfuntion and stroke.

Systematic

Hereditary ocular disease and visual impairment
	Aplasia of lacrimal and salivary glands
	Chediak-Higashi syndrome
	Fish-eye disease
	Hereditary glaucoma
	IVIC syndrome
	Knobloch syndrome 1
	Lacrimoauriculodentodigital syndrome
	Ligneous conjunctivitis
	Macular degeneration
	Manitoba oculotrichoanal syndrome
	Papillorenal syndrome
	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
		TREX1
	Retinitis pigmentosa
	Syndromic microphthalmia 6
	Usher syndrome

References:

1.	Storimans CW et al. () A new autosomal dominant vascular retinopathy syndrome.

2.	Grand MG et al. (1988) Cerebroretinal vasculopathy. A new hereditary syndrome.

3.	Jen J et al. (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

4.	Richards A et al. (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

5.	Gutmann DH et al. (1989) Hereditary retinal vasculopathy with cerebral white matter lesions.

6.	Terwindt GM et al. (1998) Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.

7.	Weil S et al. (1999) Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.

8.	Ophoff RA et al. (2001) Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.

9.	Siveke JT et al. (2003) Evidence for systemic manifestations in cerebroretinal vasculopathy.

10.	Cohn AC et al. (2005) Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome.

11.	Mateen FJ et al. (2010) Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

Update: June 23, 2025

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