Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Synonyms: Rambaud-Gallian syndrome | Rambaud-Gallian-Touchard syndrome
A rare systemic disease characterized by progressive hyalinosis involving capillaries arterioles and small veins of the digestive tract kidneys and retina associated with idiopathic cerebral calcifications manifesting with severe diarrhea (with rectal bleeding and malabsorption) nephropathy (with renal failure and systemic hypertension) chorioretinal scarring and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.