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1 - 3 of 3 results found for RDH5. Did you mean: rh5

  1. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

    PURPOSE: To describe phenotypic variability and report novel mutational data in patients with mutation in RDH5 (fundus albipunctatus). DESIGN: Retrospective case series. PARTICIPANTS: Nine patients from 8 families (aged 7-55 years) with night

  2. Molecular Genetics and Prospects for Therapy of the Inherited Retinal Dystrophies

    More than 60 genes responsible for human retinal dystrophies have been identified. Those recently isolated include the transcription factor genes NRL and NR2E3, RDH5 (retinol dehydrogenase), EFEMP1 (which encodes an extracellular matrix protein),

  3. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility...

    Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382

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