Leber congenital amaurosis

Common Name(s)

Leber congenital amaurosis

Leber congenital amaurosis 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 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. At least 13 types of this condition have been described, which are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber congenital amaurosis" for support, advocacy or research.

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 22 Sep 2015

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RDH12 Fund for Sight

The RDH12 Fund for Sight is a nonprofit organization founded by parents of children diagnosed with LCA caused by mutations in RDH12 to accomplish three main goals: build a support network of families dealing with common issues and difficulties to share their experiences, raise awareness of LCA and RDH12 and gain a better understanding of the disease, and advocate for and fund development of a cure for LCA caused by RDH12.

Last Updated: 17 Jun 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leber congenital amaurosis" for support, advocacy or research.

Logo
Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

http://www.blindness.org

Last Updated: 22 Sep 2015

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RDH12 Fund for Sight

The RDH12 Fund for Sight is a nonprofit organization founded by parents of children diagnosed with LCA caused by mutations in RDH12 to accomplish three main goals: build a support network of families dealing with common issues and difficulties to share their experiences, raise awareness of LCA and RDH12 and gain a better understanding of the disease, and advocate for and fund development of a cure for LCA caused by RDH12.

http://www.rdh12.org/

Last Updated: 17 Jun 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leber congenital amaurosis" returned 118 free, full-text research articles on human participants. First 3 results:

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
 

Author(s): Neruban Kumaran, Caterina Ripamonti, Angelos Kalitzeos, Gary S Rubin, James W B Bainbridge, Michel Michaelides

Journal: Invest. Ophthalmol. Vis. Sci.. 2018 01;59(1):85-93.

 

RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration. We aim to provide detailed information about how cone dysfunction affects ...

Last Updated: 31 Dec 1969

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The genetic profile of Leber congenital amaurosis in an Australian cohort.
 

Author(s): Jennifer A Thompson, John N De Roach, Terri L McLaren, Hannah E Montgomery, Ling H Hoffmann, Isabella R Campbell, Fred K Chen, David A Mackey, Tina M Lamey

Journal: Mol Genet Genomic Med. 2017 11;5(6):652-667.

 

Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic ...

Last Updated: 31 Dec 1969

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A Gene Scan Study of in Chinese Patients with Leber Congenital Amaurosis.
 

Author(s): Jing Liu, Juan Bu

Journal: Chin. Med. J.. 2017 Nov;130(22):2709-2712.

 

Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leber congenital amaurosis" returned 6 free, full-text review articles on human participants. First 3 results:

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
 

Author(s): Neruban Kumaran, Anthony T Moore, Richard G Weleber, Michel Michaelides

Journal: Br J Ophthalmol. 2017 09;101(9):1147-1154.

 

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field ...

Last Updated: 31 Dec 1969

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Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.
 

Author(s): Razek Georges Coussa, Irma Lopez Solache, Robert K Koenekoop

Journal: Ophthalmic Genet.. ;38(1):7-15.

 

This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly ...

Last Updated: 31 Dec 1969

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Leber congenital amaurosis caused by mutations in RPGRIP1.
 

Author(s): Tiansen Li

Journal:

 

Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 13 Mar 2018

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Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
 

Status: Recruiting

Condition Summary: Leber Congenital Amaurosis

 

Last Updated: 16 Aug 2017

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Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)
 

Status: Recruiting

Condition Summary: Leber Congenital Amaurosis

 

Last Updated: 15 Dec 2017

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