Cone Dystrophy

Common Name(s)

Cone Dystrophy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cone Dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Cone Dystrophy" returned 128 free, full-text research articles on human participants. First 3 results:

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
 

Author(s): Susanne Roosing, Ideke J C Lamers, Erik de Vrieze, L Ingeborgh van den Born, Stanley Lambertus, Heleen H Arts, , Theo A Peters, Carel B Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J F Letteboer, Erwin van Wijk, Ronald Roepman, Anneke I den Hollander, Frans P M Cremers

Journal: Am. J. Hum. Genet.. 2014 Aug;95(2):131-42.

 

Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and ...

Last Updated: 9 Aug 2014

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Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
 

Author(s): Said El Shamieh, Marion Neuillé, Angélique Terray, Elise Orhan, Christel Condroyer, Vanessa Démontant, Christelle Michiels, Aline Antonio, Fiona Boyard, Marie-Elise Lancelot, Mélanie Letexier, Jean-Paul Saraiva, Thierry Léveillard, Saddek Mohand-Saïd, Olivier Goureau, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Journal: Am. J. Hum. Genet.. 2014 Apr;94(4):625-33.

 

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder characterized by photoreceptor cell death and genetic heterogeneity. Mutations in many genes have been implicated in the pathophysiology of RCD, but several others remain to be ...

Last Updated: 7 Apr 2014

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Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
 

Author(s): Guilherme L Yamamoto, Wagner A R Baratela, Tatiana F Almeida, Monize Lazar, Clara L Afonso, Maria K Oyamada, Lisa Suzuki, Luiz A N Oliveira, Ester S Ramos, Chong A Kim, Maria Rita Passos-Bueno, Débora R Bertola

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):113-9.

 

Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing ...

Last Updated: 6 Jan 2014

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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 "Cone Dystrophy" returned 3 free, full-text review articles on human participants. First 3 results:

RPGRIP1 and cone-rod dystrophy in dogs.
 

Author(s): Tatyana Kuznetsova, Barbara Zangerl, Gustavo D Aguirre

Journal: Adv. Exp. Med. Biol.. 2012 ;723():321-8.

 

Last Updated: 20 Dec 2011

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Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
 

Author(s): Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Marie-Elise Lancelot, Veselina Moskova-Doumanova, Naushin H Waseem, Aline Antonio, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz

Journal:

 

Rod-cone dystrophies are heterogeneous group of inherited retinal disorders both clinically and genetically characterized by photoreceptor degeneration. The mode of inheritance can be autosomal dominant, autosomal recessive or X-linked. The purpose of this study was to identify mutations ...

Last Updated: 12 Nov 2010

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GCAP1 mutations associated with autosomal dominant cone dystrophy.
 

Author(s): Li Jiang, Wolfgang Baehr

Journal: Adv. Exp. Med. Biol.. 2010 ;664():273-82.

 

We discuss the heterogeneity of autosomal dominant cone and cone-rod dystrophies (adCD, and adCORD, respectively). As one of the best characterized adCD genes, we focus on the GUCA1A gene encoding guanylate cyclase activating protein 1 (GCAP1), a protein carrying three high affinity ...

Last Updated: 18 Mar 2010

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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

Last Updated: 23 Jun 2014

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Stem Cell Ophthalmology Treatment Study
 

Status: Recruiting

Condition Summary: Retinal Disease; Macular Degeneration; Hereditary Retinal Dystrophy; Optic Nerve Disease; Glaucoma

 

Last Updated: 4 Nov 2014

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Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa,; Cone Rod Dystrophy,; Choroideremia

 

Last Updated: 1 Dec 2014

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