Ophthalmological Features Associated With COL4A1 Mutations
نویسندگان
چکیده
منابع مشابه
Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma
With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and describe a previously unreported pathogenic missense substitution in COL4A1 (p.Gly990Val) and a new clinical presentation. We identified a heterozygous putatively pathogenic mutation of COL4A1 in a 50-year-old female with a history of cong...
متن کاملCOL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
OBJECTIVE Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 mutations contribute to sporadic, nonfamilial, intracerebral hemorrhages (ICHs). METHODS We sequenced COL4A1 in 96 patients with sporadic ICH. The presence of putative mutations was tested in 145 ICH-free controls. The effects of...
متن کاملOphthalmological Features of Parkinson Disease
BACKGROUND The aim of this study was to determine the type and frequency of ophthalmologic changes occurring in patients with Parkinson disease (PD). MATERIAL/METHODS One hundred consecutive patients (196 eyes) with idiopathic PD and a control group consisting of 100 healthy patients (196 eyes) matched for age and sex underwent a complete ophthalmological examination of both eyes, including a...
متن کاملOphthalmological Features of Machado-Joseph Disease.
Machado-Joseph disease (MJD) or spinocerebellar ataxia type-3 (SCA3) is a rare and progressive neurodegenerative disorder, as well as the most frequently inherited spinocerebellar ataxia. It has extensive polymorphic features, described through a spectrum of neurological, and especially, ophthalmological manifestations. Besides the deterioration of the oculomotor systems, degeneration predomina...
متن کاملNovel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
Mutations in COL4A1 have been identified in families with hereditary small vessel disease of the brain presumably due to a dominant-negative mechanism. Here, we report on two novel mutations in COL4A1 in two families with porencephaly, intracerebral hemorrhage and severe white matter disease caused by haploinsufficiency. Two families with various clinical presentations of cerebral microangiopat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2010
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2010.42