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. Sjogren's syndrome and plaquenil Chloroquine phosphate suspension 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. This is an autosomal dominant condition resulting from heterozygous mutations in the RDS gene 6p21.1gene product of PRPH2 is active in the retina. It is important to the integrity and stability of the structures that contain light-sensitive pigments e.g. photoreceptors. Most cases of chloroquine retinopathy have developed when a higher than currently recommended 3 mg/kg/day using lean body weight dose was used. 21 A daily dose exceeding 250 mg with a total cumulative dose between 100 and 300 g is customarily needed to produce toxicity. 22 One study showed a 19% incidence of chloroquine retinopathy in. 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 Disease-associated variants of microsomal retinol., PRPH2 Hereditary Ocular Diseases Chloroquine for malaria treatment Chloroquine-resistant cells efflux chloroquine at 40 times the rate of chloroquine-sensitive cells; the related mutations trace back to transmembrane proteins of the digestive vacuole, including sets of critical mutations in the P. falciparum chloroquine resistance transporter PfCRT gene. Chloroquine - Wikipedia. Chloroquine Retinopathy - an overview ScienceDirect Topics. RDH12 retinopathy novel mutations and phenotypic description. May 16, 2017 In the 22 known RP genes, there were six families in which compound heterozygous mutations were detected in USH2A 6% Table 1, Fig. 1, which was the most frequently mutated gene in the families. 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. Mar 03, 2020 From NCBI Gene. The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity.