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The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Leber congenital amaurosis
Overview
Leber congenital amaurosis is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. At least 13 types of this condition have been described, which are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Disease Resources
Resources can help guide your quest for factual and reliable information.
FSHD Basics
A brief overview of the disease.
Mal de Debarquement Foundation Blog
Read experiences of those living with Mal de Debarquement Syndrome in the blog. If you would like to add your experience please send it to connect@mddsfoundation for vetting and review.
Disability & Sexuality Webinar Series
Sexual health is an important but overwhelming and confusing part of growing up. This 4-part series of videos has accompanying PDFs, suggested accompanying books, and synopses of the 4 full webinars.
Cure CMD's YouTube Channel
Hundreds of hours of educational webinars about CMD
Grant Program Explanation
Grant Program Information for Clinical Research