Familial vascular retinopathy

Storimans, C. W. J. M.; Oosterhuis, J. A.; Schooneveld, Mary J. van; Bos, P. J. M.; Maaswinkel-Mooy, P. D.

doi:10.1007/bf00164839

Cited by 7 publications

(2 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In 1990, Storimans et al (with a follow‐up by Terwindt et al in 1998 ) published a report of a syndrome of retinal vasculopathy, migraines and Raynaud's phenomenon in a Dutch kindred, which they named hereditary vascular retinopathy (HVR). As initially reported, these patients did not appear to have shortened life expectancy, cerebral pseudotumors or severe compromise of visual acuity (caused by predominant peripheral retinal involvement).…”

Section: Introductionmentioning

confidence: 99%

Neuropathology and Genetics of Cerebroretinal Vasculopathies

et al. 2014

View full text Add to dashboard Cite

Cerebroretinal vasculopathy (CRV) and the related diseases hereditary endotheliopathy with retinopathy, neuropathy, and stroke (HERNS), hereditary vascular retinopathy (HVR) and hereditary systemic angiopathy (HSA) [subsequently combined as retinovasculopathy and cerebral leukodystrophy (RVCL)] are devastating autosomal-dominant disorders of early to middle-age onset presenting with a core constellation of neurologic and ophthalmologic findings. This family of diseases is linked by specific mutations targeting a core region of a gene. Frameshift mutations in the carboxyl-terminus of three prime exonuclease-1 (TREX1), the major mammalian 3' to 5' DNA exonuclease on chromosome 3p21.1-p21.3, result in a systemic vasculopathy that follows an approximately 5-year course leading to death secondary to progressive neurologic decline, with sometimes a more protracted course in HERNS. Neuropathological features include a fibrinoid vascular necrosis or thickened hyalinized vessels associated with white matter ischemia, necrosis and often striking dystrophic calcifications. Ultrastructural studies of the vessel walls often demonstrate unusual multilaminated basement membranes.

show abstract

Section: Introductionmentioning

confidence: 99%

Neuropathology and Genetics of Cerebroretinal Vasculopathies

et al. 2014

View full text Add to dashboard Cite

show abstract

“…42 Retinal vasculopathy with cerebral leukodystrophy (RVCL) (OMIM: 192315) refers to a group of cerebroretinal syndromes originally described as separate disorders: cerebroretinal vasculopathy (CRV); 43 hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); 44 and hereditary vascular retinopathy (HVR). 45,46 They had initially been described as dominantly inherited vasculopathies with similar, but distinct phenotypes including ophthalmologic and neurologic symptoms. Most patients present with retinopathy (mean age of onset $45 years), but subsequently develop severe neurologic symptoms including focal neurologic deficits, cognitive impairment, and psychiatric disturbances.…”

Section: Mendelian Forms Of Small Vessel Diseasementioning

confidence: 99%

Genetic factors in cerebral small vessel disease and their impact on stroke and dementia

Haffner

Malik

Dichgans

2015

J Cereb Blood Flow Metab

View full text Add to dashboard Cite

Cerebral small vessel disease (SVD) is among the most frequent causes of both stroke and dementia. There is a growing list of genes known to be implicated in Mendelian forms of SVD. Also, genome-wide association studies have identified common variants at a number of genetic loci that are associated with manifestations of SVD, among them loci for white matter hyperintensities, small vessel stroke, and deep intracerebral hemorrhage. Driven by these discoveries and new animal models substantial progress has been made in elucidating the molecular, cellular, and physiologic mechanisms underlying SVD. A major theme emerging from these studies is the extracellular matrix (ECM). Recent findings include a role of structural constituents of the ECM such as type IV collagens in hereditary and sporadic SVD, the sequestration of proteins with a known role in ECM maintenance into aggregates of NOTCH3, and altered signaling through molecules known to interact with the ECM. Here, we review recent progress in the identification of genes involved in SVD and discuss mechanistic concepts with a particular focus on the ECM.

show abstract

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

et al. 1995

View full text Add to dashboard Cite

Please be advised that this information was generated on 2018-05-11 and may be subject to change.We have performed retina) fluorescein angiography and audiometry in 32 familial and 7 sporadic cases of facioscapulohumeral muscular dys trophy. A mild to moderate retinal vasculopathy, consisting of retinal teleangiectasis and microaneursyms, was present in 18 of 37 evaluable angiograms (49%); 5 patients had minimal changes and 14 angiograms (38%) were normal. High frequency hearing loss was found in 25 (64%) out of 39 patients. Retinal changes were absent in 5 of 18 families (6 cases examined), and after correction for age and sex, hearing function was normal in 5 of 19 families (7 cases examined). Age and severity of the myopathy did not have a clear relationship with the retinal vascu lopathy or the hearing loss. There were no differences between families in which the myopathy was linked to chromosome 4q35 and families in which linkage could not be proven, Minimal retinal vascular changes and high tone hearing loss can be observed occasionally in the normal population. Therefore, although retinal vasculopathy and hearing loss are part of the clinical picture of FSHD, these signs cannot be accepted as decisive criteria for FSHD in clinically equivocal cases.

show abstract

Familial vascular retinopathy

Cited by 7 publications

References 2 publications

Neuropathology and Genetics of Cerebroretinal Vasculopathies

Neuropathology and Genetics of Cerebroretinal Vasculopathies

Genetic factors in cerebral small vessel disease and their impact on stroke and dementia

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

Contact Info

Product

Resources

About