Cone Rod Dystrophy

Common Name(s)

Cone Rod Dystrophy

Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness.  Most cases occur due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes. Currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cone Rod 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 Rod Dystrophy" returned 84 free, full-text research articles on human participants. First 3 results:

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
 

Author(s): Elise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, Eric Souied, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Journal:

 

Cone and cone-rod dystrophies are clinically and genetically heterogeneous inherited retinal disorders with predominant cone impairment. They should be distinguished from the more common group of rod-cone dystrophies (retinitis pigmentosa) due to their more severe visual prognosis ...

Last Updated: 11 Sep 2015

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Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
 

Author(s): Said El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, Aline Antonio, Vanessa Démontant, Christel Condroyer, Mélanie Letexier, Jean-Paul Saraiva, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo, Christina Zeitz

Journal: Biomed Res Int. 2015 ;2015():485624.

 

We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations. Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects. Genomic DNA was investigated using our customized next generation sequencing ...

Last Updated: 18 Feb 2015

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Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.
 

Author(s): Sarah Hull, Gavin Arno, Vincent Plagnol, Anthony Robson, Andrew R Webster, Anthony T Moore

Journal: Acta Ophthalmol. 2015 Aug;93(5):e392-3.

 

Last Updated: 23 Jul 2015

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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 Rod Dystrophy" returned 2 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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 21 Mar 2016

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Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
 

Status: Recruiting

Condition Summary: Usher Syndrome; Retinitis Pigmentosa

 

Last Updated: 29 Mar 2016

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Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 18 Feb 2016

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