Ribozyme Gene Therapy for Autosomal Dominant Retinal Disease

2000 ◽  
Vol 38 (2) ◽  
Author(s):  
William W. Hauswirth ◽  
Matthew M. LaVail ◽  
John G. Flannery ◽  
Alfred S. Lewin
Keyword(s):  
Gene Therapy ◽  
Autosomal Dominant ◽  
Retinal Disease

Management of Plantar Keratodermas

2017 ◽  
Vol 107 (5) ◽  
pp. 428-435 ◽  
Author(s):  
Rebecca M. Porter ◽  
Albert A. Bravo ◽  
Frances J.D. Smith
Keyword(s):  
Gene Therapy ◽  
Salicylic Acid ◽  
Alternative Treatment ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Inherited Mutations ◽  
Pachyonychia Congenita

Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation. This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. Typically, patients regularly trim/pare/file/grind their calluses and file/grind/clip their nails. Topical agents, including keratolytics (eg, salicylic acid, urea) and moisturizers, can provide limited benefit by softening the skin. For some patients, retinoids help to thin calluses but may lead to increased pain. This finding has stimulated a drive for alternative treatment options, from gene therapy to alternative nongenetic methods that focus on novel findings regarding the pathogenesis of pachyonychia congenita and the function of the underlying genes.

scholarly journals Methodological Challenges in the Economic Evaluation of a Gene Therapy for RPE65-Mediated Inherited Retinal Disease: The Value of Vision

2021 ◽  
Vol 39 (4) ◽  
pp. 383-397
Author(s):  
Simone A. Huygens ◽  
Matthijs M. Versteegh ◽  
Stefan Vegter ◽  
L. Jan Schouten ◽  
Tim A. Kanters
Keyword(s):  
Gene Therapy ◽  
Economic Evaluation ◽  
Retinal Disease ◽  
Inherited Retinal Disease ◽  
Methodological Challenges

Genes and Gene Therapy in Inherited Retinal Disease

2021 ◽  
Vol 61 (4) ◽  
pp. 3-45
Author(s):  
Aumer Shughoury ◽  
Thomas A. Ciulla ◽  
Benjamin Bakall ◽  
Mark E. Pennesi ◽  
Szilárd Kiss ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinal Disease ◽  
Inherited Retinal Disease

Viral-vectored ribozymes as therapy for autosomal dominant retinal disease

2001 ◽  
Vol 1 (1-2) ◽  
pp. 118-126
Author(s):  
William W Hauswirth ◽  
Matthew M LaVail ◽  
John G Flannery ◽  
Alfred S Lewin
Keyword(s):  
Autosomal Dominant ◽  
Retinal Disease

Gene Therapy for Retinal Disease

Retina ◽  
2013 ◽  
pp. 652-668 ◽  
Author(s):  
Jean Bennett ◽  
Albert M. Maguire
Keyword(s):  
Gene Therapy ◽  
Retinal Disease

Gene therapy for RPE65-related retinal disease

2018 ◽  
Vol 39 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Virginia Miraldi Utz ◽  
Razek Georges Coussa ◽  
Fares Antaki ◽  
Elias I. Traboulsi
Keyword(s):  
Gene Therapy ◽  
Retinal Disease

scholarly journals Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa

2011 ◽  
Vol 19 (4) ◽  
pp. 642-649 ◽  
Author(s):  
Sophia Millington-Ward ◽  
Naomi Chadderton ◽  
Mary O'Reilly ◽  
Arpad Palfi ◽  
Tobias Goldmann ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Murine Model ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Dominant Disease
Sign in / Sign up

Export Citation Format

Share Document