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. Sickle cell disease guidelines hydroxychloroquine Greater mekong subregion chloroquine resistance 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. Dec 04, 2014 Hydroxychloroquine HCQ retinopathy can result in permanent vision loss. In early stages of HCQ retinopathy, patients are usually asymptomatic with preservation of visual acuity. We aspire that our review, in conjunction with the American Academy of. Dec 17, 2009 Disease-associated variants of microsomal retinol dehydrogenase 12 RDH12 are degraded at mutant-specific rat es. Seung-Ah Lee Department of Biochemistry and Molecular Genetics, Schools of Medicine and Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA. 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 Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision., Hydroxychloroquine retinopathy A review of imaging Is plaquenil dangerousFundus autofluorescence plaquenilOpthalmologist baseline test for plaquenil bethlehemChloroquine death 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. PRPH2 Hereditary Ocular Diseases. Disease-associated variants of microsomal retinol.. Molecular Vision Leber congenital amaurosis caused by.. RDH12 mutations account for approximately 7% of disease in our cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. The clinical features of this disorder are highly characteristic and facilitate candidate gene screening. The term RDH12 retinopathy is proposed as a more accurate description. 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. 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.