NICE recommends gene therapy for inherited retinal dystrophy

BMJ ◽  
2019 ◽  
pp. l5394
Author(s):  
Elisabeth Mahase
Keyword(s):  
Gene Therapy ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy

“ There is No Cure for Stargardt’s”: The Prognosis and Rehabilitation of a Patient with Genetically Confirmed Abca 4 Mutations

2020 ◽  
pp. 237-242
Keyword(s):  
Gene Therapy ◽  
Genetic Counseling ◽  
Case Report ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Macular Dystrophy ◽  
African American Female ◽  
Abca4 Gene ◽  
Inherited Retinal Dystrophy ◽  
Comprehensive Rehabilitation

Background: Stargardt’s macular dystrophy is an autosomal recessive inherited retinal dystrophy associated with mutation in the ABCA4 gene. Although there are no current FDA approved treatments or cures for patients with Stargardt’s macular dystrophy, current research avenues include nutritional supplementation, drug therapies, and gene therapy. Case Report: A 58 year old African American female presents with suspected Stargardt’s with visual reports for comprehensive rehabilitation, including magnification assessment and genetic counseling of a patient with Stargardt’s macular dystrophy. Conclusion: Genetic testing provides insight to the phenotype and magnification determination provides significant rehabilitation to these individuals.

Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy

2021 ◽  
pp. 112067212199472
Author(s):  
Maria Pilar Martin-Gutierrez ◽  
Thomas MW Buckley ◽  
Robert E MacLaren
Keyword(s):  
Gene Therapy ◽  
Retinal Detachment ◽  
Rhegmatogenous Retinal Detachment ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Disease Process ◽  
Peripheral Retina ◽  
Inherited Retinal Dystrophy ◽  
Insight Into

Aim: We present the case of a 72-year-old male with advanced choroideremia and a left chronic rhegmatogenous retinal detachment, which to our knowledge is the first formal report of a retinal detachment in this disease. Background: Choroideremia is a rare X-linked inherited retinal dystrophy, caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), and affected males typically experience a progressive centripetal loss of vision. The disease pathology is caused by a primary retinal pigment epithelium degeneration, which leads to secondary loss of photoreceptors and choriocapillaris. This in turn leads to fusion of the degenerate outer retinal layers resulting in a retinopexy that is known to make subretinal gene therapy particularly challenging in these patients. Conclusion: Although retinal gene therapy is commonly targeted to the macular area in choroideremia, the observation of a rhegmatogenous retinal detachment indicates that the peripheral retina may not fuse with the residual choroid as occurs in the equatorial and macular regions. If this hypothesis is correct, targeting gene therapy to the retinal periphery even in advanced cases may be feasible and could potentially be used to preserve navigational vision.

scholarly journals Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

2018 ◽  
Author(s):  
Mohammed O.E. Abdallah ◽  
Mahmoud E. Koko ◽  
Shima Faisal ◽  
Melanie J. Newport ◽  
Muntaser E. Ibrahim
Keyword(s):  
Gene Therapy ◽  
Middle Eastern ◽  
Retinal Dystrophy ◽  
Genetic Diagnosis ◽  
Homozygous State ◽  
Leber Congenital Amaurosis ◽  
Healthy Mother ◽  
Whole Exome ◽  
The Family ◽  
Inherited Retinal Dystrophy

AbstractBackgroundLeber Congenital Amaurosis (LCA) is a clinically and genetically heterogeneous inherited retinal dystrophy characterized by early onset visual impairment caused by mutations in not less than 17 genes. AIPL1 mutations cause LCA type 4, comprising approximately 7% of LCA worldwide. The importance of establishing a genetic diagnosis lies in the promise of gene therapy demonstrated in mouse models.Resultswe genetically investigated a consanguineous Sudanese family with Leber Congenital Amaurosis. Eight members of the family were affected. Using whole exome sequencing in two siblings and their healthy mother, both inheritance-based and phenotype-based prioritization strategies converged to identify a truncating variant (rs62637009) in AIPL1, consistent with a diagnosis of LCA type 4. AIPL1 c.487C>T is an ultra-rare cause of LCA4 that was seen previously in homozygous state in a single Palestinian family. This recurrent variant seems to have a regional importance with a likely founder effect.ConclusionsThis report adds evidence to the pathogenicity of AIPL1 c.487C>T meriting its conclusive annotation as a recurrent pathogenic variant. This variant is particularly relevant to the middle-eastern and northeast African regions.

Na-K-activated adenosinetriphosphatase in retinae of rats with and without inherited retinal dystrophy

1970 ◽  
Vol 10 (5) ◽  
pp. 435-438 ◽  
Author(s):  
F.J.M. Daemen ◽  
J.J.H.H.M. de Pont ◽  
F. Lion ◽  
S.L. Bonting
Keyword(s):  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy

Retinal Transplantation, Stem Cell and Gene Therapy in Retinitis Pigmentosa

2021 ◽  
pp. 131-139
Keyword(s):  
Gene Therapy ◽  
Stem Cell ◽  
Retinitis Pigmentosa ◽  
Retinal Dystrophy ◽  
Gene Replacement ◽  
Disease Genes ◽  
Functional Roles ◽  
Tunnel Vision ◽  
Hereditary Retinal Dystrophy ◽  
Cell And Gene Therapy

Retinitis pigmentosa is the most common hereditary retinal dystrophy which has marked clinical and genetic heterogeneity. Common presentations among this disorder include night blindness, tunnel vision, and subsequent progression to complete blindness respectively. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even within the same family, highlighting further levels of complexity. In recent years significant advancements have been made in the understanding of the pathogenesis of the disease and stem cell and gene replacement treatments have been proposed as potentially efficacious therapies. This review summarizes the clinical development of retinal stem cell and gene therapy.

scholarly journals Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy

Cells ◽  
2020 ◽  
Vol 9 (3) ◽  
pp. 630 ◽  
Author(s):  
T. J. Hollingsworth ◽  
Alecia K. Gross
Keyword(s):  
Disease Progression ◽  
Age Of Onset ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Major Player ◽  
Inherited Retinal Dystrophy ◽  
Rate Of Progression ◽  
Immunohistochemical Methods ◽  
Onset Rate

Inherited retinal dystrophies (RDs) are heterogenous in many aspects including genes involved, age of onset, rate of progression, and treatments. While RDs are caused by a plethora of different mutations, all result in the same outcome of blindness. While treatments, both gene therapy-based and drug-based, have been developed to slow or halt disease progression and prevent further blindness, only a small handful of the forms of RDs have treatments available, which are primarily for recessively inherited forms. Using immunohistochemical methods coupled with electroretinography, optical coherence tomography, and fluorescein angiography, we show that in rhodopsin mutant mice, the involvement of both the innate and the autoimmune systems could be a strong contributing factor in disease progression and pathogenesis. Herein, we show that monocytic phagocytosis and inflammatory cytokine release along with protein citrullination, a major player in forms of autoimmunity, work to enhance the progression of RD associated with a rhodopsin mutation.

Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy

2019 ◽  
Vol 40 (2) ◽  
pp. 118-123 ◽  
Author(s):  
Li-Yun Guo ◽  
Sui-Lian Zheng ◽  
Jun Li ◽  
Qin Zhu ◽  
Wen-Hua Duan ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy

scholarly journals Understanding the impact of genetic testing for inherited retinal dystrophy

2013 ◽  
Vol 21 (11) ◽  
pp. 1209-1213 ◽  
Author(s):  
Ryan Combs ◽  
Marion McAllister ◽  
Katherine Payne ◽  
Jo Lowndes ◽  
Sophie Devery ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Retinal Dystrophy ◽  
Inherited Retinal Dystrophy ◽  
The Impact

Changes in aquaporin-4 and Kir4.1 expression in rats with inherited retinal dystrophy

2016 ◽  
Vol 148 ◽  
pp. 33-44 ◽  
Author(s):  
S. Lassiale ◽  
F. Valamanesh ◽  
C. Klein ◽  
D. Hicks ◽  
M. Abitbol ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Aquaporin 4 ◽  
Inherited Retinal Dystrophy
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