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: 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.

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

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

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
 

Author(s): Anna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, Mette Bertelsen, Ditta Zobor, Klaus Rohrschneider, Ramon A C van Huet, Siska Nurohmah, B Jeroen Klevering, Susanne Kohl, Sultana M H Faradz, Thomas Rosenberg, Anneke I den Hollander, Rob W J Collin, Frans P M Cremers

Journal:

 

The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and ...

Last Updated: 18 Jun 2014

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fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis.
 

Author(s): Manzar Ashtari, Laura Cyckowski, Alborz Yazdi, Amanda Viands, Kathleen Marshall, István Bókkon, Albert Maguire, Jean Bennett

Journal:

 

A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli. Previous reports regarding phosphenes have primarily focused on externally ...

Last Updated: 27 Jan 2014

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Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis.
 

Author(s): Lucie P Pellissier, Celso Henrique Alves, Peter M Quinn, Rogier M Vos, Naoyuki Tanimoto, Ditte M S Lundvig, Jacobus J Dudok, Berend Hooibrink, Fabrice Richard, Susanne C Beck, Gesine Huber, Vithiyanjali Sothilingam, Marina Garcia Garrido, André Le Bivic, Mathias W Seeliger, Jan Wijnholds

Journal: PLoS Genet.. 2013 ;9(12):e1003976.

 

Development in the central nervous system is highly dependent on the regulation of the switch from progenitor cell proliferation to differentiation, but the molecular and cellular events controlling this process remain poorly understood. Here, we report that ablation of Crb1 and Crb2 ...

Last Updated: 16 Dec 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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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: 11 Nov 2014

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