Retinal Vasculopathy with Cerebral Leukodystrophy
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Retinal Vasculopathy with Cerebral Leukodystrophy Overview

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Learn About Retinal Vasculopathy with Cerebral Leukodystrophy

What is the definition of Retinal Vasculopathy with Cerebral Leukodystrophy?
Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs. Symptoms begin in adulthood and can include loss of vision, Raynaud's disease, kidney and liver disease, and cognitive problems that get worse over time. Other symptoms may include migraines, gastrointestinal bleeding, and hypothyroidism. RVCL-S is caused by genetic variations in the TREX1 gene, and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and may be confirmed by the results of genetic testing.
What are the alternative names for Retinal Vasculopathy with Cerebral Leukodystrophy?
  • Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
  • Hereditary vascular retinopathy
  • ADRVCL
  • Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy
  • CRV
  • Cerebroretinal vasculopathy, hereditary
  • RVCL
  • RVCL-S
  • Retinal vasculopathy and cerebral leukoencephalopathy
  • Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
  • HVR
Who are the top Retinal Vasculopathy with Cerebral Leukodystrophy Local Doctors?
Distinguished in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Distinguished in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology

St. Christopher's Hospital For Children

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

. Dr. Chaudhry is rated as a Distinguished provider by MediFind in the treatment of Retinal Vasculopathy with Cerebral Leukodystrophy. Her top areas of expertise are Retinal Vasculopathy with Cerebral Leukodystrophy, Familial Exudative Vitreoretinopathy, Coats Disease, and Presbyopia.

Sherif Khedr
Experienced in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Experienced in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology

Bassett Medical Center

1 Atwell Road, 
Cooperstown, NY 
Languages Spoken:
English

. Dr. Khedr is rated as an Experienced provider by MediFind in the treatment of Retinal Vasculopathy with Cerebral Leukodystrophy. His top areas of expertise are Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), Retinal Vein Occlusion, and Retinal Artery Occlusion.

 
 
 
 
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Experienced in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Experienced in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology

Southeastern Retina Associates

2412 N John B Dennis Hwy, 
Kingsport, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Baer is rated as an Experienced provider by MediFind in the treatment of Retinal Vasculopathy with Cerebral Leukodystrophy. His top areas of expertise are Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), Retinal Vein Occlusion, and Retinal Artery Occlusion.

What are the latest Retinal Vasculopathy with Cerebral Leukodystrophy Clinical Trials?
Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center