منابع مشابه
Helicoid peripapillary chorioretinal degeneration in abetalipoproteinemia.
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 ...
متن کاملA 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...
متن کاملKinetics of foveal cone photopigment in myopia without chorioretinal degeneration.
PURPOSE To study the early changes in the outer retina of myopic eyes, we performed fundus reflection foveal cone densitometry in 45 subjects with normal visual acuity and no chorioretinal degeneration (ages: 18-47 years, refraction; +2.00-(-14.50) diopters). METHODS After full bleaching, the density of the photopigment was measured for 7 minutes by using a test spot, 562 nm in wavelength and...
متن کاملHelicoidal peripapillary chorioretinal degeneration: electrophysiology and psychophysics in 17 patients.
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 کاملHeredo-familial Tendinous Areflexia without Pupillary Changes.
L. VAN BOGAERT From the Neuropathological Department, Bunge Institute, Antwerp. (RECEIVED 17TH DECEMBER, 1938) IN 1926, in conjunction with Dr. A. Klaus, I observed a family in which on routine clinical examination a generalized tendinous areflexia was found in a man of 39 years and in two of his sisters. This constitutional abnormality was not associated with any symptomatology. This observati...
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: Proceedings of the Royal Society of Medicine
سال: 1961
ISSN: 0035-9157
DOI: 10.1177/003591576105401219