نتایج جستجو برای: congenital stationary night blindness
تعداد نتایج: 223938 فیلتر نتایج به سال:
PURPOSE To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the United States and other countries, and are affected with congenital stationary night blindness. METHODS Fifteen briard dogs were studied, of which 10 ...
PURPOSE To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. DESIGN Prospective, observational case series. METHODS We recruited 3 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers with Oguchi disease caused by mutations ...
Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had "nega...
BACKGROUND/AIMS To present the clinical, psychophysical, and electrophysiological characteristics of a family with dominantly inherited congenital stationary night blindness (CSNB). METHODS Five affected family members from three generations were ascertained. Four affected individuals underwent ophthalmic examination and electrodiagnostic investigations. Three affected individuals also underw...
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