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 deafness were studied in 10 related sibships. DNA samples from 59 individuals including parents and affected and nonaffected sibs were typed for markers on chromosomes 1q and 11q for which linkage has recently been established for Usher syndrome types II and I.
View Article and Find Full Text PDFOphthalmic Paediatr Genet
September 1993
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 vitelline deposits were present in some asymptomatic patients, strongly suggesting that these deposits represent variable expressivity of familial BVMD.
View Article and Find Full Text PDFSudden blindness during percutaneous thermocoagulation of the gasserian ganglion occurred in a 72-year-old woman with trigeminal neuralgia. Considered a safe procedure, we highlight the possibility of this serious complication which was probably due to direct damage of the optic nerve.
View Article and Find Full Text PDFIn three patients with thioridazine toxicity, the electroretinogram (ERG) to red light was found to be below the average normal range. A significant increase in its amplitude appeared with cessation of therapy in two cases. A further deterioration of the ERG amplitude to all stimulus conditions (white, blue, and red lights) occurred when the dose of the medication was increased in the third patient.
View Article and Find Full Text PDFAnn Ophthalmol
February 1989
The clinical manifestations of diffuse retinochoroidopathy after recurrent episodes of vitriitis led to the diagnosis of birdshot retinochoroidopathy in two patients in whom the initial lesions were cystoid macular edema and papillophlebitis. Although the onset and clinical characteristics of the early lesions varied, both patients had manifestations of chronic retinal vasculitis. We observed the late appearance and evolution of the characteristic cream-colored depigmented spots which were not present in the early stages of the disease.
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