Leber congenital amaurosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
LCA; Congenital absence of the rods and cones; Congenital retinal blindness;
Congenital and Genetic Diseases; Eye diseases
- 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
A specific behavior called Franceschetti's oculodigital 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,
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Abnormality of the optic disc||0012795|
|Severely reduced visual acuity||
Marked vision impairment
Severe visual impairment
Severely impaired vision
[ more ]
|30%-79% of people have these symptoms|
|Abnormality of neuronal migration||0002269|
|Aplasia/Hypoplasia of the cerebellar vermis||0006817|
Clouding of the lens of the eye
[ more ]
Paralysis or weakness of one side of body
Low or weak muscle tone
Involuntary, rapid, rhythmic eye movements
|5%-29% of people have these symptoms|
[ more ]
Mental retardation, nonspecific
[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Voretigene neparvovec-rzyl(Brand name: Luxturna) Manufactured by Spark Therapeutics, Inc
FDA-approved indication: An adeno-associated
virus vector-based gene therapyindicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cellsdetermined by a treating physician.
National Library of Medicine Drug Information Portal
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes retinitis pigmentosa, Alström syndrome, Joubert syndrome, Stargardt disease, Senior-Loken syndrome, Conorenal syndrome and infantile neuronal ceroid lipofuscinosis. Cortical blindness is a frequent misdiagnosis when there is limited access to functional testing or high resolution morphological examination.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
- The Foundation for Fighting Blindness provides information on their Web site on leber congenital amaurosis. Click on the link to view this information.
- Genetics Home Reference (GHR) contains information on Leber congenital amaurosis. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Leber congenital amaurosis in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Leber congenital amaurosis. Click on the link to view a sample search on this topic.
- Leber congenital amaurosis. Genetics Home Reference. August 2010; https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis.
- Weleber RG, Francis PJ & Trzupek KM. Leber Congenital Amaurosis. GeneReviews. 2013; https://www.ncbi.nlm.nih.gov/books/NBK1298/.
- Amaurosis Retiniana Congénita de Leber. FEDER. https://enfermedades-raras.org/index.php/component/content/article?id=717.
- Leber congenital amaurosis. Genetics Home Reference. August 2010; https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis. Accessed 7/26/2012.