Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Victor Godel"'
Publikováno v:
Acta Ophthalmologica. 50:655-663
Publikováno v:
Acta Ophthalmologica. 50:664-676
In 59 patients treated with long-term systemic steroids, 3 distinct groups with different levels of sensitivity to the steroid effect on intraocular pressure and fluid dynamics could be distinguished by a topical dexame-thasone test. The percental di
Publikováno v:
Acta Ophthalmologica. 58:825-830
A 19-year-old male suffering from Leber's miliary aneurysm was also found to be affected by a dysbetalipoproteinaemia (type IV hyperlipoproteinaemia). The pathophysiologic mechanism of the condition and the possible metabolic cause are discussed. In
Autor:
R. M. Goodman, Victor Godel
Publikováno v:
Clinical Genetics. 20:260-266
Three unrelated families (two Jewish and one Druze) are reported, in which a total of eight males exhibited the ophthalmological findings of primary retinal dysplasia. Since our affects male members only have eye findings, this disorder is readily di
Publikováno v:
Clinical Genetics. 21:161-167
A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant
Publikováno v:
Clinical Genetics. 16:277-281
Three families affected by juvenile nephronophthisis are described and genetically analyzed. The extrarenal manifestations of the disease include retinal findings such as congenital Leber amaurosis, retinitis pigmentosa and sector retinitis pigmentos
Autor:
Batsheva Bonne-Tamir, S. Weiss, Victor Godel, Ruth Beker, Michael Korostishevsky, Hagar Kalinsky, Eyal Seroussi
Publikováno v:
Genomics. 20:36-42
Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafn
Publikováno v:
Ophthalmic Paediatrics and Genetics. 14:131-136
Two families with Best's vitelliform macular dystrophy (BVMD) were investigated ophthalmoscopically and electrophysiologically. Pedigree examination confirmed the autosomal dominant heredity of this disorder with variable expressivity. Extrafoveal vi
Publikováno v:
Documenta Ophthalmologica. 49:347-359
Juvenile nephronophthisis and medullary cystic diseases are inherited kidney disorders leading to end stage uremia. As these diseases appear to be identical, they were grouped together in nephronophthisis-cystic renal medulla complex. Among its extra
Publikováno v:
Documenta Ophthalmologica. 52:179-188
The Wagner's vitreoretinal degeneration is a condition characterized by myopia, cataract, optically empty vitreous cavity and retinal breaks leading to retinal detachments with poor surgical prognosis. Several extraocular manifestations were reported