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

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

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
 

Author(s): Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, Chrysanthi Tsika, Styliani V Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P Hamel, Bart P Leroy, Elfride De Baere

Journal: Am. J. Hum. Genet.. 2016 Aug;99(2):470-80.

 

Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T ...

Last Updated: 4 Aug 2016

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Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
 

Author(s): Xun Sun, James H Park, Jessica Gumerson, Zhijian Wu, Anand Swaroop, Haohua Qian, Antonina Roll-Mecak, Tiansen Li

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2016 May;113(21):E2925-34.

 

Mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulting from photoreceptor degeneration. A photoreceptor specific ORF15 variant of RPGR (RPGR(ORF15)), carrying multiple Glu-Gly tandem ...

Last Updated: 25 May 2016

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Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
 

Author(s): Richard G Weleber, Mark E Pennesi, David J Wilson, Shalesh Kaushal, Laura R Erker, Lauren Jensen, Maureen T McBride, Terence R Flotte, Margaret Humphries, Roberto Calcedo, William W Hauswirth, Jeffrey D Chulay, J Timothy Stout

Journal: Ophthalmology. 2016 Jul;123(7):1606-20.

 

To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children with retinal degeneration caused by RPE65 mutations.

Last Updated: 25 Jun 2016

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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 4 free, full-text review articles on human participants. First 3 results:

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.
 

Author(s): John Pei-Wen Chiang, Tina Lamey, Terri McLaren, Jennifer A Thompson, Hannah Montgomery, John De Roach

Journal: Expert Rev. Mol. Diagn.. 2015 ;15(10):1269-75.

 

Next-generation sequencing, also known as massively paralleled sequencing, offers an unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a dramatic change from a few years ago. The specific involvement of the retina and the manageable number of ...

Last Updated: 23 Sep 2015

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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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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: 1 Jan 2017

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Optical Head-Mounted Display Technology for Low Vision Rehabilitation
 

Status: Recruiting

Condition Summary: Retinal Dystrophies; Healthy

 

Last Updated: 26 Jun 2017

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Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
 

Status: Recruiting

Condition Summary: Leber Congenital Amaurosis (LCA); Eye Diseases; Eye Diseases, Hereditary; Retinal Diseases

 

Last Updated: 22 Feb 2017

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