Leber congenital amaurosis
Other Names for this Disease
- Congenital absence of the rods and cones
- Congenital retinal blindness
- Leber's amaurosis
- Leber's congenital tapetoretinal degeneration
A specific behavior called Franceschetti's oculo-digital sign is characteristic of LCA. This behavior consists of poking, pressing, and rubbing the eyes with a knuckle or finger. It may possibly contribute to deep-set eyes and keratoconus in affected children.
In rare cases, delayed development and intellectual disability have been reported in people with the features of LCA. However, it is unclear whether these individuals actually have LCA or another syndrome with similar signs and symptoms.
The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Leber congenital amaurosis. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis. Accessed 7/26/2012.