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; Amaurosis congenita of Leber See More

Categories:

Congenital and Genetic Diseases; Eye diseases

Subtypes:

Leber congenital amaurosis 1; Leber congenital amaurosis 10; Leber congenital amaurosis 11; Leber congenital amaurosis 1; Leber congenital amaurosis 10; Leber congenital amaurosis 11; Leber congenital amaurosis 12; Leber congenital amaurosis 13; Leber congenital amaurosis 14; Leber congenital amaurosis 15; Leber congenital amaurosis 16; Leber congenital amaurosis 2; Leber congenital amaurosis 3; Leber congenital amaurosis 4; Leber congenital amaurosis 5; Leber congenital amaurosis 6; Leber congenital amaurosis 7; Leber congenital amaurosis 8; Leber congenital amaurosis 9 See More

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

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.

Showing of 16 |

Medical Terms	Other Names	Learn More: HPO ID
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 ]	0001141
30%-79% of people have these symptoms
Abnormal electroretinogram		0000512
Abnormality of neuronal migration		0002269
Aplasia/Hypoplasia of the cerebellar vermis		0006817
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Encephalocele		0002084
Hemiplegia/hemiparesis	Paralysis or weakness of one side of body	0004374
Keratoconus	Bulging cornea	0000563
Muscular hypotonia	Low or weak muscle tone	0001252
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Seizure		0001250
5%-29% of people have these symptoms
Global developmental delay		0001263
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249

Showing of 16 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2020

Do you have updated information on this disease? We want to hear from you.

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

FDA-Approved Treatments

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 therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells determined by a treating physician.
National Library of Medicine Drug Information Portal

Related Diseases Related Diseases

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.

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 related to 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.
With LCA Gene Therapy, a Rare Glimpse of the Adult Brain Adapting to New Experience (2015)
Success of gene therapy for a form of inherited blindness depends on timing (2019)
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)

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Leber congenital amaurosis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Leber congenital amaurosis:
My Retina Tracker®

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

Curing Retinal Blindness Foundation
E-mail: kim@crb1.org
Website: http://crb1.org/
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: info@fightblindness.org
Website: https://www.fightingblindness.org/
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8, Ireland
Telephone: +353 1 472 0468
E-mail: avril.daly@retina-International.org
Website: https://www.retina-international.org/

Do you know of an organization? We want to hear from you.

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

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.

In-Depth Information

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.
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.

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