A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness
نویسندگان
چکیده
منابع مشابه
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness
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...
متن کاملGNAT1 associated with autosomal recessive congenital stationary night blindness.
PURPOSE Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is generally associated with other ocular symptoms, such as nystagmus, myopia, and strabismus. This study was conducted to further investigate the genetic basis of CSNB in a consanguineous Pakistani family. METHODS A consanguineous family with multiple individuals manife...
متن کاملA naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness
PURPOSE To identify the gene mutation responsible for a previously described rat model of X-linked congenital stationary night blindness (CSNB). METHODS Rat orthologous genes for Nyx and Cacna1f were isolated from retina through rapid amplification the cDNA ends (RACE) and examined for mutations. Electroretinograms were used to identify affected animals. RESULTS The rat Nyx cDNA spans 1,971...
متن کاملA naturally occurring mouse model of X-linked congenital stationary night blindness.
PURPOSE To describe a naturally occurring X-linked recessive mutation, no b-wave (nob), that compromises visual transmission between photoreceptors and second-order neurons in mice. METHODS Affected mice were identified by recording the light-evoked response of the retina, the electroretinogram (ERG). To evaluate visual transmission, cortical potentials were recorded with a scalp electrode. T...
متن کاملThe autosomal recessive variety of congenital stationary night-blindness with myopia.
Congenital stationary night-blindness associated with myopia may be transmitted by two types of inheritance: X-linked recessive (Worth, 1906; Nettleship, 1909 and 1912; Kleiner, 1923) and autosomal recessive (Nettleship, 1912; Vogt, 1923; Gassler, 1925; Akiya, 1935; Merin et al, 1970). There are only a few reports of either variety. The present paper describes a family where 3 sibs are affected...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2015
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0137072