Pattern of Retinopathy: Although the locus of toxic damage is parafoveal in many eyes, Asian patients often show an extramacular pattern of damage. Dose: We recommend a maximum daily HCQ use of 5.0 mg/kg real weight, which correlates better with risk than ideal weight. Plaquenil and doxycycline interaction Plaquenil and mood changes Hydroxychloroquine lupus mechanism Oct 10, 2013 Exome sequencing in a single patient allowed the detection of two missense mutations in the RDH12 gene a c.446TC transition predicting a novel p. L149P substitution, and a c.295CA transversion predicting a previously reported p. L99I replacement. Sanger sequencing confirmed that all affected subjects carried both RDH12 mutations. Molecular vision rdh12 retinopathy novel mutation phenotypic description microarray screening respective family informed consent associated phenotype bi-allelic mutation fundus autofluorescence silico prediction program corresponding loss autosomal recessive retinal dystrophy direct sanger sequencing seventeen novel mutation retinal. This study describes the phenotypic variability and genetic defects observed in a cohort of 38 Chinese patients with biallelic variants of the RDH12 gene. To the best of our knowledge, our study represents the largest collection of RDH12 patients worldwide to date. Risk of Toxicity: The risk of toxicity is dependent on daily dose and duration of use. There are no similar demographic data for CQ, but dose comparisons in older literature suggest using 2.3 mg/kg real weight. Gene rdh12 chloroquine retinopathy Phenotype-genotype correlation with Sanger sequencing identified., CiteSeerX — © 2011 Molecular Vision RDH12 retinopathy novel. Pancreatitis and plaquenilPlanopilaris plaquenil Visual arrestins Arr1, Arr4 and the visual cycle gene Rdh12, whereas cells of the RPE-choroid exhibit light-dependent regulation of the visual cycle key genes Lrat, Rpe65, and Rdh5. Clock-driven rhythmicity of Arr1, Arr4, and Rdh12 was observed also in rat pinealocytes, to persist in a mouse model of diabetic retinopathy db/ and, in the. Rhythmic Regulation of Photoreceptor and RPE Genes Important.. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL.. Elevation deficiency in children with recessive RDH12-related.. Retinol dehydrogenase 12 RDH12 is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photoreceptors. It functions as part of the visual cycle, which is a series of enzymatic reactions required for the regeneration of the visual pigment, and has also been implicated in detoxification of lipid peroxidation products. RDH12 retinopathy novel mutations and phenotypic description Donna S. Mackay, 1 Arundhati Dev Borman, 1,2 Phillip Moradi, 2 Robert H. Henderson, 2 Zheng Li, 1,5 Genevieve A. Wright, 2 Naushin. The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium RPE. This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye.