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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy.
 

Author(s): Emmanuelle Souzeau, Jennifer A Thompson, Terri L McLaren, John N De Roach, Christopher P Barnett, Tina M Lamey, Jamie E Craig

Journal:

 

Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed ...

Last Updated: 31 Dec 1969

Go To URL
Early onset flecked retinal dystrophy associated with new compound heterozygous variants.
 

Author(s): Satoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi, Kentaro Kurata, Kei Mizobuchi, Tomokazu Matsuura, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano, Yoshihiro Hotta

Journal:

 

To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy.

Last Updated: 31 Dec 1969

Go To URL
The effect of intravitreal bevacizumab in a rare case of retinal dystrophy with secondary cystoid macular edema.
 

Author(s): Mioara-Laura Macovei, Maria-Alexandra Nica

Journal: Rom J Ophthalmol. ;61(2):123-127.

 

The authors presented a clinical case of retinitis punctate albescens in a 26-year-old female patient, with a family history of typical retinitis pigmentosa (father) and bilateral cystoid macular edema treated with anti-VEGF (bevacizumab).

Last Updated: 31 Dec 1969

Go To URL

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

Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review.
 

Author(s): Ruchir Tewari, Vinod Kumar, Raghav Ravani, Devashish Dubey, Parijat Chandra, Atul Kumar

Journal: Indian J Ophthalmol. 2018 05;66(5):708-711.

 

Two eyes of 2 patients with macular hole-associated retinal detachment in clinically diagnosed vitelliruptive stage of Best vitelliform dystrophy were surgically managed by 25-gauge sutureless pars plana vitrectomy, internal limiting membrane (ILM) peeling with inverted ILM flap, ...

Last Updated: 31 Dec 1969

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
 

Status: Recruiting

Condition Summary: Inherited Retinal Dystrophies

 

Last Updated: 28 Sep 2018

Go to URL

Last Updated: 9 Oct 2018

Go to URL
A Patient Registry Study for Patients Treated With Voretigene Neparvovec
 

Status: Not yet recruiting

Condition Summary: Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy

 

Last Updated: 4 Sep 2018

Go to URL