Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients
نویسندگان
چکیده
منابع مشابه
Congenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملCongenital Stationary Night Blindness Panel
Test code: OP1201 The Blueprint Genetics Congenital Stationary Night Blindness Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of congenital stationary night blindness. The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of congenital stationary night blindness (CSNB). The clinical utility of this diagnostic panel...
متن کاملNystagmus characteristics in congenital stationary night blindness (CSNB).
AIM To analyse nystagmus characteristics in patients with congenital stationary night blindness (CSNB) for differentiation from other forms of early childhood nystagmus. METHODS Horizontal and vertical eye movements of 10 patients (6-46 years, mean 17.1 years, median 12.5 years) with CSNB (eight with CSNB1, two with CSNB2) were recorded with the scleral magnetic search coil technique or by el...
متن کاملCongenital stationary night blindness: an animal model.
Electroretinographic studies of myctalopic Appaloosa horses demonstrated photopic and scotopic abnormalities similar to those in humans with congenital stationary night blindness (CSNB) of the Schubert-Bornschein type. The phototopic abnormalities consisted of reduced b-wave amplitudes and slower than normal b-wave implict time. The dark-adapted ERG's consisted of a simple negative potential; t...
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ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: 2073-4425
DOI: 10.3390/genes12060789