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

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
 

Author(s): Panagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G MacArthur, , Shomi S Bhattacharya, Anthony T Moore, Graham E Holder, Anthony G Robson, Uwe Wolfrum, Andrew R Webster, Vincent Plagnol

Journal: Am. J. Hum. Genet.. 2014 May;94(5):760-9.

 

In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated ...

Last Updated: 5 May 2014

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Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
 

Author(s): Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez, Michael B Gorin

Journal:

 

A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became legally blind within a period of 2 years.

Last Updated: 29 Jan 2014

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Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
 

Author(s): Firoz Kabir, Shagufta Naz, S Amer Riazuddin, Muhammad Asif Naeem, Shaheen N Khan, Tayyab Husnain, Javed Akram, Paul A Sieving, J Fielding Hejtmancik, Sheikh Riazuddin

Journal:

 

To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families.

Last Updated: 23 Jul 2013

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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: 19 Dec 2013

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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: 24 Mar 2014

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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: 2 May 2012

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