Chapter title |
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies
|
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Chapter number | 21 |
Book title |
Retinal Degenerative Diseases
|
Published in |
Advances in experimental medicine and biology, January 2016
|
DOI | 10.1007/978-3-319-17121-0_21 |
Pubmed ID | |
Book ISBNs |
978-3-31-917120-3, 978-3-31-917121-0
|
Authors |
John D. Hulleman, Hulleman, John D. |
Abstract |
Fibulin-3 (F3) is a secreted, disulfide-rich glycoprotein which is expressed in a variety of tissues within the body, including the retina. An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD). ML/DHRD shares many phenotypic similarities with age-related macular degeneration (AMD). The most prominent feature of ML/DHRD is the development of radial or honeycomb patterns of drusen which can develop as early as adolescence. Two independent mouse models of ML/DHRD show evidence of complement activation as well as retinal pigment epithelium (RPE) atrophy, strengthening the phenotypic connection with AMD. Because of its similarities with AMD, ML/DHRD is receiving increasing interest as a potential surrogate disease to study the underpinnings of AMD. This mini-review summarizes the current knowledge of F3 and points toward potential therapeutic strategies which directly or indirectly target cellular dysfunction associated with R345W F3. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 28 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 5 | 18% |
Other | 4 | 14% |
Researcher | 4 | 14% |
Student > Doctoral Student | 3 | 11% |
Student > Ph. D. Student | 2 | 7% |
Other | 4 | 14% |
Unknown | 6 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 39% |
Agricultural and Biological Sciences | 7 | 25% |
Biochemistry, Genetics and Molecular Biology | 2 | 7% |
Nursing and Health Professions | 1 | 4% |
Unknown | 7 | 25% |