Retinal Dystrophies

A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.

Also Known As:

Networked: 387 relevant articles (13 outcomes, 27 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Retinitis Pigmentosa (Pigmentary Retinopathy)
2.	Blindness (Hysterical Blindness)
3.	Retinal Degeneration
4.	Macular Degeneration (Age-Related Maculopathy)
5.	Leber Congenital Amaurosis

Experts

1.	Moore, Anthony T: 14 articles (11/2015 - 10/2004)
2.	Holder, Graham E: 10 articles (10/2015 - 02/2008)
3.	Webster, Andrew R: 10 articles (04/2015 - 03/2008)
4.	Robson, Anthony G: 8 articles (04/2015 - 02/2008)
5.	Thompson, Debra A: 8 articles (02/2015 - 09/2003)
6.	Ali, Robin R: 6 articles (11/2015 - 01/2006)
7.	Henderson, Robert H: 6 articles (06/2012 - 01/2009)
8.	Khan, Arif O: 5 articles (12/2015 - 06/2013)
9.	Bhattacharya, Shomi S: 5 articles (05/2014 - 10/2004)
10.	Wissinger, Bernd: 5 articles (07/2013 - 08/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Retinal Dystrophies:

1.	Retinaldehyde (Retinal)IBA 05/01/2012 - "The first human clinical trials of gene therapy for RPE65 associated retinal dystrophy have shown promising initial results and have helped prepare the way for further trials of gene therapy for inherited retinal disorders. " 11/01/2015 - "We used these tests to assess retinal function in eight young adults and children with early-onset severe retinal dystrophy from Phase II of a clinical gene-therapy trial for RPE65 deficiency that involved the subretinal delivery of a recombinant adeno-associated viral vector carrying RPE65. " 09/01/2015 - "We used these tests to assess retinal function in eight young adult and child patients with early-onset severe retinal dystrophy enrolled in phase II of a clinical gene therapy trial for RPE65 deficiency, an isomerase, the lack of which disrupts the "visual cycle" upon which rods solely depend for regenerating visual pigment after light exposure. " 04/01/2013 - "This study demonstrates the potential feasibility of using pupillometer-based chromatic perimetry for objectively assessing VF defects and retinal function in patients with retinal dystrophies. " 09/01/2001 - "It is an important retinal dystrophy to study, not only because it has implications in the care and treatment of patients with the condition, but because it also provides important information regarding retinal function. "
2.	Vitamin A (Retinol)FDA LinkGeneric 09/01/2003 - "On the basis of early successes in animal models, and plans underway for Phase I/II clinical trials, it is hoped that the near future will bring effective therapies for many retinal dystrophy patients with defects in vitamin A metabolism." 06/01/2001 - "Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases." 04/01/1974 - "The vitamin A transporting protein complex in human hereditary pigmentous retinal dystrophy." 01/01/2016 - "Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies?" 09/01/2008 - "Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation."
3.	Complementary DNA (cDNA)IBA 06/01/2015 - "Gene transfer therapy is the most promising cure for retinal dystrophies and has primarily been applied for recessive null conditions via a viral gene expression vector transferring a cDNA encoding an enzyme or channel protein, and targeting expression to one cell type. " 10/30/1998 - "To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the United States and other countries, and are affected with congenital stationary night blindness. " 03/01/1997 - "PCR-SSCP (single strand conformation polymorphism) analysis and direct sequencing of retinal cDNA didn't provide any evidence that mutations in the canine arrestin gene are responsible for the retinal dystrophy seen in the Swedish strain of Briard dogs. " 03/01/1997 - "Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy."
4.	Phosphotransferases (Kinase)IBA 02/02/2010 - "In a striking manner, the equimolar binding of RetGC1 with GCAP1 in transfected HEK293 cells typical for wild-type RetGC1 was eliminated by a substitution, D639Y, in the kinase homology domain of RetGC1 found in a patient with a severe form of retinal dystrophy, Leber congenital amaurosis (LCA). " 02/01/2003 - "To determine whether mice that are homozygous for a targeted disruption of the Mer receptor tyrosine kinase gene (mer(kd)) manifest a retinal dystrophy phenotype similar to RCS rats, which carry a mutation in the orthologous gene MERTK: Eyes of mer(kd) and C57BL/6 wild-type (WT) mice were examined by light and electron microscopy, whole-eye rhodopsin measurement, and Ganzfeld electroretinography (ERG). "
5.	type 1 Usher syndromeIBA 12/01/2004 - "It also deletes all but two of the 28 exons of the USH1C gene, which causes Usher syndrome and is important for the normal development and function of the ear and the eye, the gastrointestinal tract, and the kidney, thereby accounting for the symptoms of deafness, vestibular dysfunction and retinal dystrophy seen in type 1 Usher syndrome, diarrhoea, malabsorption, and tubulopathy. " 06/01/2010 - "The Tubby mouse is a phenotypic model for sensorineural deafness and retinal dystrophy including Usher syndrome type 1. Thioredoxin is a small 13kDa protein which, when ubiquitously expressed as a transgene in the mouse, provides protection against multiple disease states including light-induced and oxidative stress-induced neurodegeneration and is down-regulated in the Tubby retina. "
6.	Trimeprazine (Alimemazine)IBA 01/01/2001 - "We report a child with retinal dystrophy and congenital (a)periodic alternating nystagmus (APAN) who responded immediately with improved visual function and electrooculographic parameters after taking the psychopharmacologic stimulant Dexedrine Spansule (Glaxo-Smith Kline, NC, USA) as part of treatment for his Attention Deficit Disorder. "
7.	ThioredoxinsIBA 06/01/2010 - "The Tubby mouse is a phenotypic model for sensorineural deafness and retinal dystrophy including Usher syndrome type 1. Thioredoxin is a small 13kDa protein which, when ubiquitously expressed as a transgene in the mouse, provides protection against multiple disease states including light-induced and oxidative stress-induced neurodegeneration and is down-regulated in the Tubby retina. "
8.	RibonucleotidesIBA 05/01/1990 - "The drug , a complex of ribonucleotides, which was found to improve the vision in some patients with retinitis pigmentosa, stimulates the morphogenesis of rod outer segments (ROS) in mutant Campbell rats with inherent retinal dystrophy. "
9.	Glucose (Dextrose)FDA LinkGeneric 01/01/2002 - "This change in inner retinal glucose metabolism following photoreceptor loss may help to explain the inner retinal vascular changes observed following photocoagulation and in retinal dystrophies."
10.	Dextroamphetamine (Dexedrine)FDA LinkGeneric 01/01/2001 - "For unexplained reasons the stimulant Dexedrine "paradoxically" improved the nystagmus, binocular function and visual acuity in this patient with retinal dystrophy and congenital nystagmus. " 01/01/2001 - "We report a child with retinal dystrophy and congenital (a)periodic alternating nystagmus (APAN) who responded immediately with improved visual function and electrooculographic parameters after taking the psychopharmacologic stimulant Dexedrine Spansule (Glaxo-Smith Kline, NC, USA) as part of treatment for his Attention Deficit Disorder. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 05/01/1993 - "Recent studies in RPE transplantation have clearly shown that photoreceptor cells in rats with inherited retinal dystrophy can be rescued from ultimate degeneration by transplantation of healthy RPE cells. " 04/01/1999 - "Therefore this form of canine retinal dystrophy provides an attractive animal model of the corresponding human disorder with immediate significance for various therapeutic approaches, including RPE transplantation." 01/01/1989 - "Photoreceptor cell rescue in the RCS rat by RPE transplantation: a therapeutic approach in a model of inherited retinal dystrophy." 12/01/1988 - "Inherited retinal dystrophy in the RCS rat: prevention of photoreceptor degeneration by pigment epithelial cell transplantation." 01/01/2014 - "Transplantation of human bone marrow mesenchymal stem cells as a thin subretinal layer ameliorates retinal degeneration in a rat model of retinal dystrophy."
2.	Visual Prosthesis 05/01/2013 - "Retinal prosthesis systems (RPS) are a novel treatment for profound vision loss in outer retinal dystrophies. " 09/01/2013 - "Optogenetics, visual prosthesis and electrostimulation for retinal dystrophies." 06/01/2005 - "The use of implantable electronic visual prostheses will become a possible option in the treatment of currently untreatable retinal dystrophies. "
3.	Light Coagulation 01/01/2002 - "This change in inner retinal glucose metabolism following photoreceptor loss may help to explain the inner retinal vascular changes observed following photocoagulation and in retinal dystrophies."
4.	Hyperbaric Oxygenation 10/01/1989 - "[The efficacy of hyperbaric oxygenation in the combined treatment of patients with atherosclerotic retinal dystrophy]."
5.	Intravitreal Injections 06/01/2011 - "Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial."