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

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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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
 

Author(s): Julie Hoover-Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann Moser, Ok-Hwa Kim, Tae-Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong-Kyu Jin, Hiroshi Kitoh, Woong-Yang Park, Hua Ling, Kurt N Hetrick, Kimberly F Doheny, David Valle, Richard M Pauli

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):105-12.

 

Last Updated: 6 Jan 2014

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A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
 

Author(s): Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B Beck

Journal:

 

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, ...

Last Updated: 14 Oct 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 "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

Natural History and Genetic Studies of Usher Syndrome
 

Status: Recruiting

Condition Summary: Retinitis Pigmentosa Syndromic; Congenital Deafness; Usher Syndrome; Retinitis Pigmentosa and Deafness; Progressive Hearing Loss; Retinitis Pigmentosa

 

Last Updated: 18 Jun 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: 24 May 2013

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Last Updated: 23 Jun 2014

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