Electroretinographic Findings in a Patient with Congenital Stationary Night Blindness Due to a NovelNYXMutation
نویسندگان
چکیده
منابع مشابه
Multifocal ERG findings in complete type congenital stationary night blindness.
PURPOSE To study the multifocal electroretinogram (mfERG) in patients with the complete type of congenital stationary night blindness (cCSNB), which is thought to be due to a defect in neurotransmission from the photoreceptors to the ON-bipolar cells. METHODS mfERGs were recorded with the VERIS recording system from four patients with cCSNB, none of whom had nystagmus. The stimulus array cons...
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 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 کاملLong-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness
BACKGROUND This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. CASE The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acuity. Best corrected visual acuity (BCVA) was 0.5 in the right eye and 0.6 in the left eye. The refractive error was approximately -5.0 D in both ey...
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ژورنال
عنوان ژورنال: Ophthalmic Genetics
سال: 2013
ISSN: 1381-6810,1744-5094
DOI: 10.3109/13816810.2012.743570