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

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
 

Author(s): Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi

Journal: Eur. J. Hum. Genet.. 2017 May;25(5):651-655.

 

Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal ...

Last Updated: 8 Mar 2017

Go To URL
Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy?
 

Author(s): Onder Ayyildiz, Gokhan Ozge, Murat Kucukevcilioglu, Cem Ozgonul, Tarkan Mumcuoglu, Ali Hakan Durukan, Fatih Mehmet Mutlu

Journal: Arq Bras Oftalmol. ;79(5):315-318.

 

The aim of the present study was to use enhanced depth imaging optical coherence tomography (EDI-OCT) to investigate choroidal changes in patients with cone dystrophy (CD) and to correlate these findings with clinical and electroretinography (ERG) findings.

Last Updated: 16 Dec 2016

Go To URL
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

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 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 Sep;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: 9 Jul 2017

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: 23 Sep 2015

Go To URL
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

Go To URL
 
 
Top

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

Go to URL
Optical Head-Mounted Display Technology for Low Vision Rehabilitation
 

Status: Recruiting

Condition Summary: Retinal Dystrophies; Healthy

 

Last Updated: 26 Jun 2017

Go to URL

Last Updated: 16 Nov 2017

Go to URL