Gene rdh12 chloroquine retinopathy

Discussion in 'Hydroxychloroquine Sulfate 200 Mg' started by pronto, 23-Feb-2020.

  1. UniMagicum XenForo Moderator

    Gene rdh12 chloroquine retinopathy

    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.

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    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.

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  7. 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..
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    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.

  8. doct Well-Known Member

    Chloroquine has long been used in the treatment or prevention of malaria from Plasmodium vivax, P. malariae, excluding the malaria parasite Plasmodium falciparum, for it started to develop widespread resistance to it. Autophagy New Insights into Mechanisms of Action and. Mechanism and medical implications of mammalian autophagy. Role of chloroquine as an anticancer agent Request PDF
  9. klon777 Guest

    Hydroxychloroquine (Plaquenil) is considered a disease-modifying anti-rheumatic drug (DMARD). Hydroxychloroquine Plaquenil A Lyme Disease Antibiotic Guide - Treat Lyme Plaquenil lyme Anti-Inflammatories discussions Therapies.
  10. maluw XenForo Moderator

    Taking Plaquenil for Rheumatoid Arthritis Plaquenil is a DMARD which has been prescribed for years to treat rheumatoid arthritis, lupus, juvenile rheumatoid arthritis, and other autoimmune diseases. When the first biologic DMARD received FDA-approval in 1998, and as other biologics followed in subsequent years, it appeared as though Plaquenil would become less prescribed.

    Side Effects of Plaquenil Hydroxychloroquine, Warnings, Uses