Retinal Dystrophy

Common Name(s)

Retinal Dystrophy

Description for this condition is not yet available.
 

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

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
 

Author(s): Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali

Journal:

 

Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic ...

Last Updated: 19 Aug 2014

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Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
 

Author(s): Kimberly A Aldinger, Stephen J Mosca, Martine Tétreault, Jennifer C Dempsey, Gisele E Ishak, Taila Hartley, Ian G Phelps, Ryan E Lamont, Diana R O'Day, Donald Basel, Karen W Gripp, Laura Baker, Mark J Stephan, Francois P Bernier, Kym M Boycott, Jacek Majewski, , , Jillian S Parboosingh, A Micheil Innes, Dan Doherty

Journal: Am. J. Hum. Genet.. 2014 Aug;95(2):227-34.

 

Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without neuromuscular involvement (Poretti-Boltshauser ...

Last Updated: 9 Aug 2014

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
 

Author(s): Akhila Alapati, Kerry Goetz, John Suk, Mili Navani, Amani Al-Tarouti, Thiran Jayasundera, Santa J Tumminia, Pauline Lee, Radha Ayyagari

Journal:

 

To analyze the genetic test results of probands referred to eyeGENE with a diagnosis of hereditary maculopathy.

Last Updated: 3 Sep 2014

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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

There are currently no related results available in GeneReviews.

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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: 20 May 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: 16 Apr 2015

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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 Mar 2015

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