نتایج جستجو برای: oguchi disease
تعداد نتایج: 1490119 فیلتر نتایج به سال:
Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S‑antigen (SAG) and G‑protein‑dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to hav...
Oguchi disease is an autosomal recessive condition in which congenital night blindness is associated with a light-dependent golden fundus discoloration (Mizuo-Nakamura phenomenon). Co-segregation of Oguchi disease with chromosome 2q markers in an Indian pedigree (Maw et al., 1995) and a homozygous frameshift mutation in 5 of 6 apparently unrelated Japanese patients (Fuchs et al., 1995) has impl...
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 ...
PURPOSE The purpose of this study was to identify the underlying molecular genetic defect in a large consanguineous Pakistani family with Oguchi disease who had been given a diagnosis of autosomal recessive retinitis pigmentosa. METHODS The family was genotyped with the Affymetrix 10K single nucleotide polymorphism array. Fine-mapping of a common homozygous region on chromosome 13q was perfor...
Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness. The condition is associated with fundus discolouration and abnormally slow dark adaptation. Earlier studies suggested that the 48 kD protein S antigen may be involved in the recovery phase of light transduction. Previous cytogenetic and linkage studies have localised the S antigen gene (SAG) to chromosom...
PURPOSE Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE). METHODS Mutation analysis was done by sequencing two candi...
purpose: to report an iranian patient with diagnosis of oguchi disease associated with diabetic retinopathy. methods: a 50-year-old diabetic woman with night blindness was referred to our clinic. complete ophthalmic examination including ophthalmoscopy after dark adaptation and paraclinic evaluations such as fluorescein angiography and electroretinography were performed. results: in the both ey...
We analyzed the change in the ERG rod a-wave waveform during the course of dark adaptation in two patients with Oguchi disease. Two Japanese patients showed a homozygous arrestin 1147delA mutation. Scotopic flash ERGs were recorded after different periods of dark adaptation. ERG rod a-waves were obtained after subtraction of the cone ERG contribution. The rod a-waves were fitted with a model of...
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