Retinal Vasculopathy with Cerebral Leukodystrophy
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Retinal Vasculopathy with Cerebral Leukodystrophy Overview

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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?
Experienced in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Experienced in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Referral may be required

Bassett Medical Center

1 Atwell Road, 
Cooperstown, NY 
Languages Spoken:
English

Sherif Khedr is an Ophthalmologist practicing medicine in Cooperstown, New York. Dr. Khedr is rated as an Experienced provider by MediFind in the treatment of Retinal Vasculopathy with Cerebral Leukodystrophy. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), Retinal Vein Occlusion, and Retinal Artery Occlusion.

Distinguished in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Distinguished in Retinal Vasculopathy with Cerebral Leukodystrophy
Ophthalmology
Referral may be required

Lexington Eye Associates, Inc

21 Worthen Road, 
Lexington, MA 
Languages Spoken:
English, Mandarin
Offers Telehealth

Olivia Liao is an Ophthalmologist practicing medicine in Lexington, Massachusetts. Dr. Liao is rated as a Distinguished provider by MediFind in the treatment of Retinal Vasculopathy with Cerebral Leukodystrophy. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Choroid Plexus Carcinoma, Retinal Vasculopathy with Cerebral Leukodystrophy, Familial Exudative Vitreoretinopathy, and Coats Disease. Dr. Liao is board certified in American Board Of Ophthalmology.

 
 
 
 
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Distinguished in Retinal Vasculopathy with Cerebral Leukodystrophy
Distinguished in Retinal Vasculopathy with Cerebral Leukodystrophy
Referral may be required

LVH Neurology-1250 Cedar Crest

1250 S Cedar Crest Blvd, Suite 405, 
Allentown, PA 
Languages Spoken:
English

Philosophy of care | I believe in working alongside patients and families as part of a team to reestablish their way of life, focusing on preserving and empowering each person’s ideal way of living. | Why I entered medicine | I love having the opportunity to help individuals reconnect with the unique aspects of life they value by restoring function and highlighting intact potential. | Community involvement | My wife and I proudly support United Way of the Greater Lehigh Valley! | Personal interests | I like bonsai and gardening, hiking, tennis, table tennis, golf, and my dog (a very sweet American Staffordshire terrier named Bumblebee). Dr. Smith is rated as a Distinguished provider by MediFind in the treatment of Retinal Vasculopathy with Cerebral Leukodystrophy. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Creutzfeldt-Jakob Disease, Retinal Vasculopathy with Cerebral Leukodystrophy, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Primary Lateral Sclerosis. Dr. Smith is board certified in American Board Of Psychiatry & Neurology - Neurology.

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