Leber congenital amaurosis

Información en español Title

Other Names:

LCA; Congenital absence of the rods and cones; Congenital retinal blindness; LCA; Congenital absence of the rods and cones; Congenital retinal blindness; Leber's amaurosis; Leber's congenital tapetoretinal degeneration; Leber's congenital tapetoretinal dysplasia See More

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary Summary

Leber congenital amaurosis (LCA) 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 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.^[1] Different subtypes have been described. The different subtypes are caused by mutations in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. Treatment includes correction farsightedness and use of low-vision aids when possible.^[2]

Last updated: 3/27/2017

Symptoms Symptoms

Leber congenital amaurosis (LCA) primarily affects the retina, the specialized tissue at the back of the eye that detects light and color. Beginning in infancy, people with LCA typically have severe visual impairment. This is most often non-progressive, but sometimes it very slowly worsens over time. Other vision problems associated with LCA include:^[2]^[3]

Photophobia
Nystagmus
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, hearing loss, and intellectual disability have been reported in people with the features of LCA. However, it is unclear whether these people actually have LCA or another syndrome with similar signs and symptoms.^[4]

Last updated: 3/27/2017

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of retinal pigmentation	Very frequent (present in 80%-99% of cases)
Abnormality of the optic disc	Very frequent (present in 80%-99% of cases)
Severe visual impairment	Very frequent (present in 80%-99% of cases)
Abnormal electroretinogram	Frequent (present in 30%-79% of cases)
Abnormality of neuronal migration	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the cerebellar vermis	Frequent (present in 30%-79% of cases)
Cataract	Frequent (present in 30%-79% of cases)
Encephalocele	Frequent (present in 30%-79% of cases)
Hemiplegia/hemiparesis	Frequent (present in 30%-79% of cases)
Keratoconus	Frequent (present in 30%-79% of cases)
Muscular hypotonia	Frequent (present in 30%-79% of cases)
Nystagmus	Frequent (present in 30%-79% of cases)
Seizures	Frequent (present in 30%-79% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
Intellectual disability	Occasional (present in 5%-29% of cases)

Last updated: 10/1/2017

Diagnosis Diagnosis

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.

Testing Resources

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.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Leber congenital amaurosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
National Eye Institute (NEI) has information about research using gene therapy to correct the vision of people with Leber congenital amaurosis caused by mutations in RPE65 gene.
The Research Road: Gene Therapy for Leber Congenital Amaurosis (2009)
Gene Therapy for Leber Congenital Amaurosis (2009)
Benefits for Leber Congenital Amaurosis Peak after One to Three Years, then Diminish (2015)
Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations (LCA)

Organizations Organizations

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.

Organizations Supporting this Disease

Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 800-683-5555
Telephone: 410-423-0600 (local)
TTY: 800-683-5551
E-mail: info@fightblindness.org
Website: http://www.blindness.org
Retina International
Ausstellungsstrasse 36
CH-8005 Zurich
Switzerland
Telephone: + 41 (0) 44 444 10 77
Fax: + 41 (0) 44 444 10 70
E-mail: christina.fasser@retina-international.org
Website: http://www.retina-international.org

Do you know of an organization? Send us your suggestions.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Leber congenital amaurosis. This website is maintained by the National Library of Medicine.
The Foundation for Fighting Blindness provides information on their Web site on leber congenital amaurosis. Click on the link to view this information.
The Foundation for Retinal Research provides information on their Web site on leber congenital amaurosis. Click on the link to view this information.
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.

In-Depth Information

The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.
Orphanet
Orphanet
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.

News & Events News & Events

News

Researchers Use Mini Form of Replacement Gene to Delay Photoreceptor Degeneration in Leber Congenital Amaurosis
October 12, 2017
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
Gene Therapy for LCA Peaks at One to Three Years Than Diminished
May 3, 2015

NCATS Co-Sponsored Conferences

2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference Sunday, February 13, 2011 - Friday, February 18, 2011
Location: Ventura, CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.

Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
- Agenda ( - 74KB)
- Summary ( - 14KB)

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