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

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
 

Author(s): Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz

Journal:

 

GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation ...

Last Updated: 15 Dec 2016

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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
 

Author(s): Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre P Moulin, Frans P M Cremers, Ronald Roepman, Yvan Arsenijevic, Miltiadis K Tsilimbaris, Sten Andréasson, Carlo Rivolta

Journal: Am. J. Hum. Genet.. 2016 Sep;99(3):770-776.

 

Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease ...

Last Updated: 3 Sep 2016

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An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
 

Author(s): Osnat Eidinger, Rina Leibu, Hadas Newman, Leah Rizel, Ido Perlman, Tamar Ben-Yosef

Journal:

 

To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family.

Last Updated: 24 Dec 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 11 Aug 2016

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Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 15 Jul 2016

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Last Updated: 28 Apr 2016

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