Identification of novel mutations in the GRK1 gene in an Algerian family with Oguchi disease

AIM: ) gene associated with Oguchi disease and to analyze the different multimodal imaging results. METHODS: gene. All subjects underwent a comprehensive ophthalmological examination, including color vision testing, visual field testing, wide-field retinography, fundus autofluorescence, macular optical coherence tomography (OCT), and full-field electroretinography (ERG). RESULTS: gene. In addition, the novel intronic variant c.699+2T>C was detected in the same gene in the heterozygous state in individuals III-II and IV-I. Family segregation showed that Oguchi disease was transmitted in an autosomal recessive pattern in this family. CONCLUSION: gene are reported that are linked to Oguchi disease in a naïve Algerian family. The common findings observed on the OCT scans of our affected patients include packing of the three outer hyper-reflective bands, and thickening of the retina in the parafoveal region. These features are present not only in the affected patients but also in the carriers of the disease.