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. Chloroquine retinopathy dose Plaquenil causing psoriasis Is chloroquine safe in pregnancy 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. 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. 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. 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., PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL. Plaquenil withdrawal symptomsChloroquine cytokineEbay plaquenilHydroxychloroquine multiple sclerosisOct hydroxychloroquine retinopathy 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. Retinol dehydrogenase 12 RDH12 Role in vision, retinal.. Exome sequencing identifies RDH12 compound heterozygous.. Novel RDH12 mutations associated with Leber congenital.. Fundus examination revealed retinal dystrophic changes consistent with RDH12-related retinopathy. Cycloplegic refraction was +5.25 −1.00 × 180 in the right eye and +5.75 −1.00 × 180 in the left eye. Sequencing of RDH12 revealed homozygosity for an intronic mutation predicted to cause a cryptic splice site c.848+82CG. Oct 12, 2019 Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa. Seventeen novel mutations in the RDH12 gene were identified that accounted for approximately 7% of disease in a cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. RDH12 and RPE65, Visual Cycle Genes Causing Leber Congenital Amaurosis, Differ in Disease Expression Article PDF Available in Investigative Ophthalmology & Visual Science 481332-8 February.