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retinal dysplasia/sordità
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4 risultati
Renal retinal dysplasia with diffuse glomerular cysts.
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A 32-year-old male with renal retinal dysplasia is presented. He also showed hearing loss and growth retardation. Laboratory data showed mild proteinuria, renal dysfunction and type-1 renal tubular acidosis. Computed tomography showed multiple cysts at the corticomedullary junction of both kidneys.
Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.
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Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by beta-glucuronidase (GUSB) deficiency. This disease exhibits a broad spectrum of clinical signs including skeletal dysplasia, retinal degeneration, cognitive deficits and hearing impairment. Sustained, high-level
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
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A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive bearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural
A genetic linkage study of a family with Norrie's disease.
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A family having one member with Norrie's disease, X-linked retinal dysplasia associated with hearing loss and mental retardation, was studied using DNA markers. The DNA markers were used to try and confirm the diagnosis of Norrie's disease by detecting a deletion of the X chromosome. Linkage
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