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.

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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 85 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 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

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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

Last Updated: 23 Jun 2014

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Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum
 

Status: Not yet recruiting

Condition Summary: Retinitis Pigmentosa

 

Last Updated: 18 Sep 2014

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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: 24 Jun 2014

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