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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.[] […] type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy[] 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[]

  • Retinitis Pigmentosa

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

  • Seckel Syndrome

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

  • Hypertension

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

  • 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[] […] for retinopathy of prematurity study.[] Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina, often accompanied[]

  • Neurodegeneration with Brain Iron Accumulation

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

  • Dyskeratosis Congenita

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

  • 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.[] Two of the three siblings had severe diabetic retinopathy requiring laser photocoagulation.[] This is further evidence of the genetic heterogeneity of diabetes mellitus.[]

  • Diabetes Mellitus

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

  • Bardet-Biedl Syndrome Type 11

    Homogeneity testing demonstrates genetic heterogeneity within our set of families.[] Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease.[] 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[]

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