A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
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منابع مشابه
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).
Sveinsson's chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration or atrophia areata, is an autosomal dominant eye disease, characterized by symmetrical lesions radiating from the optic disc involving the retina and the choroid. Genome-wide linkage analysis mapped the SCRA gene to chromosome 11p15 in 81 patients from a large founder pedigree in Icel...
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Abetalipoproteinemia is a rare autosoma1 recessive disorder characterized by the absence of apolipoprotein B.' It is caused by mutations of the microsomal triglyceridetransfer protein gene.' Ocular manifestations include retinitis pigmentosa-like changes, nystagmus, ophthalmoplegia, ptosis, cataracts, anisocoria, and angioid ~treaks.~ Helicoid peripapillary chorioretinal degeneration (HPCD) is ...
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AIMS To characterise retinal function using electrophysiological and psychophysical tests in 17 patients with helicoidal peripapillary chorioretinal degeneration. METHODS The electroretinogram (ERG) was recorded using gold foil corneal electrodes. The electro-oculogram (EOG) was recorded using a standard protocol. Dark adaptometry was recorded with an SST-1 dark adaptometer and colour vision ...
متن کاملPigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
PURPOSE Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. The purpose of this study was to describe the phenotype of a family with PPCRA, determine the mode of inheritance, and identify the causal mutation. METHODS Ophthalmic examination was performed on seven family members and serially det...
متن کاملRetinal microangiopathy in pigmented paravenous chorioretinal atrophy.
This report describes an atypical case of pigmented paravenous chorioretinal atrophy, associated with focal progressive peripheral retinal microangiopathy, in a 51-year-old black female. The eyes were asymmetrically involved. Although several cases have been reported with typical features of this uncommon entity, none of them have been known to be associated with retinal microangiopathy. The oc...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2004
ISSN: 1460-2083
DOI: 10.1093/hmg/ddh106