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

Retinal pigment epithelium aperture: A late-onset complication in adult-onset foveomacular vitelliform dystrophy.
 

Author(s): Reema Bansal, Sonam Yangzes, Ramandeep Singh, Deeksha Katoch, Mangat R Dogra, Vishali Gupta, Amod Gupta

Journal: Indian J Ophthalmol. 2018 01;66(1):83-88.

 

The purpose of the study was to report aperture of retinal pigment epithelium (RPE) as a late complication and an unreported finding during the natural course of adult-onset foveomacular vitelliform dystrophy (AFVD).

Last Updated: 31 Dec 1969

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Heterozygous mutation in associated with early-onset retinal dystrophy with atypical maculopathy.
 

Author(s): Maram Ea Abdalla-Elsayed, Patrik Schatz, Christine Neuhaus, Arif O Khan

Journal:

 

Heterozygous mutations in have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in underlying early-onset retinal dystrophy with atypical maculopathy.

Last Updated: 31 Dec 1969

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Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.
 

Author(s): Hongxin Song, Ethan A Rossi, Edwin Stone, Lisa Latchney, David Williams, Alfredo Dubra, Mina Chung

Journal: Br J Ophthalmol. 2018 01;102(1):136-141.

 

Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging ...

Last Updated: 31 Dec 1969

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

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
 

Author(s): Neruban Kumaran, Anthony T Moore, Richard G Weleber, Michel Michaelides

Journal: Br J Ophthalmol. 2017 09;101(9):1147-1154.

 

Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 20 Apr 2018

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