Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

Autor:	Roque D. Carrero-Valenzuela, William H. Murphey, Michael L. Klein, Richard G. Weleber, Michael Litt
Rok vydání:	1996
Předmět:	Adult Male medicine.medical_specialty genetic structures Fundus Oculi Eye disease Chromosomes Human Pair 22 Matrix metalloproteinase Biology medicine.disease_cause Macular Degeneration Internal medicine Ophthalmology medicine Serine Humans Point Mutation Macula Lutea Cysteine Aged Tissue Inhibitor of Metalloproteinase-3 Mutation Proteins DNA Visual symptoms Middle Aged medicine.disease eye diseases Pedigree Endocrinology Choroidal neovascularization Sorsby fundus dystrophy Central vision Female sense organs medicine.symptom Retinopathy Microsatellite Repeats
Zdroj:	Archives of ophthalmology (Chicago, Ill. : 1960). 114(6)
ISSN:	0003-9950
Popis:	Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed113a653ad7b755a2d2de6056eaf37 https://pubmed.ncbi.nlm.nih.gov/8639088 Zobrazit plný text záznamu