Leber congenital amaurosis
- Congenital absence of the rods and cones
- Congenital retinal blindness
- Leber's amaurosis
- Leber's congenital tapetoretinal degeneration
- Leber congenital amaurosis 1
- Leber congenital amaurosis 10
- Leber congenital amaurosis 11
- Leber congenital amaurosis 12
- Leber congenital amaurosis 13
- Clouding of the lens of the eyes (cataract)
- Crossed eyes (strabismus)
- Enophthalmos (eye balls are dislocated backward)
- Abnormal retinal pigment
- Extreme farsightedness (hyperopia)
- Pupils that may not react normally to light; they may expand and contract more slowly than normal, or they may not respond to light at all
- Keratoconus, a condition in which the cornea is cone-shaped and abnormally thin, may also be present.
In rare cases, delayed development, hearing loss 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.
- Amaurosis Retiniana Congénita de Leber. FEDER. http://enfermedades-raras.org/index.php/component/content/article?id=717.
- Leber congenital amaurosis. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis. Accessed 7/26/2012.