COMPARISON OF DRUSEN AND MODIFYING GENES IN AUTOSOMAL DOMINANT RADIAL DRUSEN AND AGE-RELATED MACULAR DEGENERATION
| Autor: | Elliott H. Sohn, Megan J Riker, Edwin M. Stone, Stewart Thompson, Jeremy M. Hoffmann, Robert F. Mullins, Kai Wang |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Collagen Type IV Male medicine.medical_specialty Genotyping Techniques genetic structures Retinal Drusen Drusen Polymorphism Single Nucleotide Article Young Adult Ophthalmology Age related medicine Humans Vitronectin DOYNE HONEYCOMB RETINAL DYSTROPHY MALATTIA LEVENTINESE Alleles Aged Aged 80 and over Corneal Dystrophies Hereditary Extracellular Matrix Proteins Optic Disk Drusen business.industry Serine Endopeptidases Proteins High-Temperature Requirement A Serine Peptidase 1 General Medicine Middle Aged Macular degeneration medicine.disease Tissue Donors eye diseases Serum Amyloid P-Component Complement Factor H Wet Macular Degeneration Female sense organs business Modifying genes |
| Zdroj: | Retina. 35:48-57 |
| ISSN: | 0275-004X |
| DOI: | 10.1097/iae.0000000000000263 |
| Popis: | Autosomal dominant radial drusen (ADRD), also termed Malattia Leventinese and Doyne honeycomb retinal dystrophy, causes early-onset vision loss because of mutation in EFEMP1. Drusen in an exceedingly rare ADRD human donor eye was compared with eyes affected with age-related macular degeneration (AMD). This study also elucidated whether variations in high-risk AMD genotypes modify phenotypic severity of ADRD.Morphologic and histochemical analyses of drusen in one ADRD donor and seven AMD donors. Evaluation of complement factor H (CFH) and ARMS2/HTRA1 alleles in a cohort of 25 subjects with ADRD.Autosomal dominant radial drusen had unique onion skin-like lamination but otherwise shared many compositional features with hard, nodular drusen and/or diffuse soft drusen with basal deposits. Autosomal dominant radial drusen also possessed collagen type IV, an extracellular matrix protein that is absent in age-related drusen. Antibodies directed against the membrane attack complex showed robust labeling of ADRD. Vitronectin and amyloid P were present in drusen of both types. High-risk alleles in the CFH and ARMS2/HTRA1 genes were not associated with increasing ADRD severity.Drusen from ADRD and AMD exhibit overlap of some major constituents, but ADRD exhibit distinct alterations in the extracellular matrix that are absent in AMD. |
| Databáze: | OpenAIRE |
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