Retinal Dystrophy

Common Name(s)

Retinal Dystrophy

Retinal dystrophy is an inherited group of disorders that result in vision loss. Retinal dystrophy causes the light-sensitive cells that make up the retina, known as photoreceptors, to gradual fade and die. The photoreceptors normally capture the light and send a visual message to the brain through the optic nerve. But as the special photoreceptor cells die, the retina cannot work properly and cannot send the visual information to the brain. The most common form of retinal dystrophy is retinitis pigmentosa, a condition that leads to vision over time.

The most common symptoms of retinal dystrophy are tunnel vision, loss of central vision, night blindness, increased sensitivity to light, and reduced ability to adjust to light changes. These symptoms develop gradually over time, with age of onset differing based on the condition. Retinal dystrophy is diagnosed using an eye exam that measures the patient’s clarity of vision, strength of eye muscles, reaction to light, and ability to perform daily tasks. Retinal dystrophy is divided into two main subgroups: macular dystrophy responsible for loss of central vision, and cone dystrophy responsible for loss of visual clarity and increased light sensitivity.

Research to find genes responsible for different forms of retinal dystrophy is in progress. Therefore while genetic testing is effective in diagnosing more common forms of the condition, not all subsets can be identified using a genetic test. There is currently no cure for retinal dystrophy. However, rehabilitative treatment such as corrective lenses and mobility training can help with management of the condition. If you or a family member has been diagnosed with retinal dystrophy, talk to your doctor about the most current treatment options. Genetic counselors and support groups are also available for more resources and information and can help connect you with others living with retinal dystrophy.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Retinal 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 "Retinal Dystrophy" returned 88 free, full-text research articles on human participants. First 3 results:

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
 

Author(s): Kent W Small, Adam P DeLuca, S Scott Whitmore, Thomas Rosenberg, Rosemary Silva-Garcia, Nitin Udar, Bernard Puech, Charles A Garcia, Thomas A Rice, Gerald A Fishman, Elise Héon, James C Folk, Luan M Streb, Christine M Haas, Luke A Wiley, Todd E Scheetz, John H Fingert, Robert F Mullins, Budd A Tucker, Edwin M Stone

Journal: Ophthalmology. 2016 Jan;123(1):9-18.

 

To identify specific mutations causing North Carolina macular dystrophy (NCMD).

Last Updated: 28 Dec 2015

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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
 

Author(s): Ivan Conte, Kristen D Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari S Bhat, Annamaria Carissimo, Marianthi Karali, Louise F Porter, Jill Urquhart, Sofie Hateley, James O'Sullivan, Forbes D C Manson, Stephan C F Neuhauss, Sandro Banfi, Graeme C M Black

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Jun;112(25):E3236-45.

 

Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and clinical heterogeneity, the separate ...

Last Updated: 24 Jun 2015

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Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
 

Author(s): Yan Xu, Liping Guan, Xueshan Xiao, Jianguo Zhang, Shiqiang Li, Hui Jiang, Xiaoyun Jia, Jianhua Yang, Xiangming Guo, Ye Yin, Jun Wang, Qingjiong Zhang

Journal:

 

Mutations in 60 known genes were previously identified by exome sequencing in 79 of 157 families with retinitis pigmentosa (RP). This study analyzed variants in 129 genes associated with other forms of hereditary retinal dystrophy in the same cohort.

Last Updated: 22 May 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 "Retinal Dystrophy" returned 3 free, full-text review articles on human participants. First 3 results:

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
 

Author(s): C C Ronquillo, P S Bernstein, W Baehr

Journal: Vision Res.. 2012 Dec;75():88-97.

 

Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) ...

Last Updated: 4 Dec 2012

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Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.
 

Author(s): Anthony G Robson, Michel Michaelides, Zubin Saihan, Alan C Bird, Andrew R Webster, Anthony T Moore, Fred W Fitzke, Graham E Holder

Journal: Doc Ophthalmol. 2008 Mar;116(2):79-89.

 

To examine the presence and functional significance of annular fundus autofluorescence abnormalities in patients with different retinal dystrophies.

Last Updated: 15 Feb 2008

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Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
 

Author(s): A Michalik, J-J Martin, C Van Broeckhoven

Journal: Eur. J. Hum. Genet.. 2004 Jan;12(1):2-15.

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized by gradual loss of motor coordination, resulting from dysfunction and degeneration of the cerebellum and its connecting pathways. The disease is caused by ...

Last Updated: 5 Jan 2004

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
 

Status: Recruiting

Condition Summary: Retinal Dystrophies; Retinitis Pigmentosa; Glaucoma

 

Last Updated: 22 Nov 2015

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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: 30 Jan 2016

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Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
 

Status: Recruiting

Condition Summary: Retinal Dystrophies; Age-related Macular Degeneration; Arterial Hypertension; Diabetes; Traumatic Retinopathy; Toxic Retinopathies

 

Last Updated: 23 Feb 2016

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