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.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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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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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.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

View Details
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 102 free, full-text research articles on human participants. First 3 results:

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
 

Author(s): Xia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Keqing Wang, Huanan Ren, Irma Lopez, Jacques E Zaneveld, Sorath Siddiqui, Stephanie Bowles, Ayesha Khan, Jason Salvo, Samuel G Jacobson, Alessandro Iannaccone, Feng Wang, David Birch, John R Heckenlively, Gerald A Fishman, Elias I Traboulsi, Yumei Li, Dianna Wheaton, Robert K Koenekoop, Rui Chen

Journal: J. Med. Genet.. 2013 Oct;50(10):674-88.

 

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical diagnosis and allow gene specific treatments.

Last Updated: 18 Sep 2013

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Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.
 

Author(s): J Jason McAnany, Mohamed A Genead, Saloni Walia, Arlene V Drack, Edwin M Stone, Robert K Koenekoop, Elias I Traboulsi, Alison Smith, Richard G Weleber, Samuel G Jacobson, Gerald A Fishman

Journal: JAMA Ophthalmol. 2013 Feb;131(2):178-82.

 

To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene.

Last Updated: 15 Feb 2013

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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
 

Author(s): Artur V Cideciyan, Samuel G Jacobson, William A Beltran, Alexander Sumaroka, Malgorzata Swider, Simone Iwabe, Alejandro J Roman, Melani B Olivares, Sharon B Schwartz, András M Komáromy, William W Hauswirth, Gustavo D Aguirre

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Feb;110(6):E517-25.

 

Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. Clinical trials with gene augmentation therapy have shown partial ...

Last Updated: 6 Feb 2013

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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 3 free, full-text review articles on human participants. First 3 results:

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
 

Author(s): Artur V Cideciyan

Journal: Prog Retin Eye Res. 2010 Sep;29(5):398-427.

 

Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production ...

Last Updated: 13 Jul 2010

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[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].
 

Author(s): S Hanein, I Perrault, S Gerber, G Tanguy, C Hamel, J-L Dufier, J-M Rozet, J Kaplan

Journal: J Fr Ophtalmol. 2005 Jan;28(1):98-105.

 

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor ...

Last Updated: 15 Mar 2005

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Molecular genetics of Leber congenital amaurosis.
 

Author(s): Frans P M Cremers, José A J M van den Hurk, Anneke I den Hollander

Journal: Hum. Mol. Genet.. 2002 May;11(10):1169-76.

 

Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes ...

Last Updated: 16 May 2002

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
 

Status: Recruiting

Condition Summary: Leber Congenital Amaurosis

 

Last Updated: 1 Mar 2010

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Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
 

Status: Recruiting

Condition Summary: Inherited Retinal Dystrophy Due to RPE65 Mutations

 

Last Updated: 13 Jan 2014

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Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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