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3,010 Possible Causes for Genetic Heterogeneity, Loss of Vision

  • Usher Syndrome Type 1

    Individuals with Usher Syndrome have hearing loss and vision loss.[evolvegene.com] 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] 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]

  • Leber Congenital Amaurosis

    CASE PRESENTATION: An 18-year old Syrian female patient presented with bilateral gradual loss of vision since early childhood, with recent deterioration in her left eye.[ncbi.nlm.nih.gov] Abstract Leber congenital amaurosis (LCA) is a genetically heterogeneous disorder and the most severe form of inherited retinal dystrophy.[ncbi.nlm.nih.gov] The observation by Waardenburg of normal children born to affected parents supports the genetic heterogeneity of LCA.[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    She presented with a history of acute, painless vision loss in her left eye over a period of 10 days.[ncbi.nlm.nih.gov] Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far.[ncbi.nlm.nih.gov] RP is clinically and genetically heterogeneous disorder.[ncbi.nlm.nih.gov]

  • Usher Syndrome

    loss of vision.[disabilityarts.online] […] mutation analysis of genetically heterogeneous conditions caused by large genes.[ncbi.nlm.nih.gov] It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy

    PURPOSE: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients.[ncbi.nlm.nih.gov] Conclusions: There is genetic heterogeneity in autosomal dominant optic atrophy, because the third family did not map to any known locus.[jhu.pure.elsevier.com] Visual impairment Impaired vision Loss of eyesight Poor vision The OPA1 protein is located in the mitochondria.[rarediseases.info.nih.gov]

  • Optic Atrophy

    Your child’s teacher of students with visual impairments should perform a functional vision assessment to determine how your child uses his or her vision in everyday life[afb.org] Epilepsy is a phenotypically and genetically highly heterogeneous disorder with 200 genes linked to inherited forms of the disease.[ncbi.nlm.nih.gov] The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction.[ncbi.nlm.nih.gov]

  • Wolfram Syndrome

    These correlated with anosmia, loss of vision, loss of hearing, cerebellar symptoms and signs, Babinski sign, and clonus, respectively, clinically observed in this patient[ncbi.nlm.nih.gov] 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] This is further evidence of the genetic heterogeneity of diabetes mellitus.[ncbi.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis

    He showed mental retardation and visual impairment in the first decade which gradually developed along with motor dysfunction for over 40 years.[ncbi.nlm.nih.gov] This study was conducted to further characterize genetic heterogeneity in families affected by LINCL.[ncbi.nlm.nih.gov] The onset of sleep disturbance was associated with the onset of both seizures (ρ 0.5834, P 0.0001) and loss of vision (ρ 0.3840, P 0.0084).[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1J

    Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of 10 genes resulting in a combination of hearing loss and visual impairment, and is a[disabled-world.com] Abstract Sensorineural hearing loss is genetically heterogeneous.[ncbi.nlm.nih.gov] Usher syndrome 1G (USH1G) [MIM:606943]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[genecards.org]

  • Glaucoma

    The disease is responsible for one in ten cases of visual impairment.[telegraph.co.uk] Developmental glaucoma can occur as an isolated or syndromic condition and is genetically heterogeneous.[ncbi.nlm.nih.gov] CONCLUSION: Understanding genetic heterogeneity and involvement of neurotrophin biology in glaucoma could help to understand the complex pathophysiology of glaucoma.[ncbi.nlm.nih.gov]

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