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2,261 Possible Causes for Genetic Heterogeneity, Retinopathy

  • Usher Syndrome Type 1

    These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.[ncbi.nlm.nih.gov] […] type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy[ncbi.nlm.nih.gov] CONCLUSIONS: The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far.[ncbi.nlm.nih.gov] She developed proliferative diabetic retinopathy (PDR) during the course of disease. She was promptly managed with pan retinal photocoagulation (PRP).[ncbi.nlm.nih.gov] RP is clinically and genetically heterogeneous disorder.[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition. Copyright 2002 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients.[ncbi.nlm.nih.gov] This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition[ncbi.nlm.nih.gov]

  • Hypertension

    Hypertension caused by a truncated sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995;11:76–82.[web.archive.org] High blood pressure increases the risk of both development of diabetic retinopathy and its progression.[ncbi.nlm.nih.gov] Hypertension caused by a truncated sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995 ; 11 :76–82.[doi.org]

  • Exudative Vitreoretinopathy Type 2

    FEVR is genetically heterogeneous and mutations in four genes, NDP, FZD4, LRP5, and TSPAN12, encoding components of a novel ligand-receptor complex that activates the Norrin-β-catenin[ncbi.nlm.nih.gov] […] for retinopathy of prematurity study.[doi.org] Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina, often accompanied[ncbi.nlm.nih.gov]

  • Neurodegeneration with Brain Iron Accumulation

    The clinical, radiographic and genetic heterogeneity of NBIA has to be underlined.[ncbi.nlm.nih.gov] Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy[ncbi.nlm.nih.gov] heterogeneity in neurodegeneration with brain iron accumulation.[ncbi.nlm.nih.gov]

  • Dyskeratosis Congenita

    It exhibits marked clinical and genetic heterogeneity.[hmg.oxfordjournals.org] Children with exudative retinopathy should be periodically screened for macrocytosis and cytopenias to evaluate for underlying DC.[ncbi.nlm.nih.gov] Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes.[ncbi.nlm.nih.gov]

  • Wolfram Syndrome

    Most WS patients carry mutations in this gene, but some studies provided evidence for genetic heterogeneity, and the genotype-phenotype relationships are not clear.[ncbi.nlm.nih.gov] Two of the three siblings had severe diabetic retinopathy requiring laser photocoagulation.[ncbi.nlm.nih.gov] This is further evidence of the genetic heterogeneity of diabetes mellitus.[ncbi.nlm.nih.gov]

  • Diabetes Mellitus

    […] which raises the question of genetic heterogeneity predisposing to this form of the disease.[doi.org] Any degree of retinopathy beyond background retinopathy is not allowed.[ukdmc.org] Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations.[ncbi.nlm.nih.gov]

  • Bardet-Biedl Syndrome Type 11

    Homogeneity testing demonstrates genetic heterogeneity within our set of families.[nature.com] Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease.[books.google.de] CASE REPORT Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso[scielo.br]

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