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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.[] These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.[] 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[]

  • 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.[] Abstract Leber congenital amaurosis (LCA) is a genetically heterogeneous disorder and the most severe form of inherited retinal dystrophy.[] The observation by Waardenburg of normal children born to affected parents supports the genetic heterogeneity of LCA.[]

  • Retinitis Pigmentosa

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

  • Usher Syndrome

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

  • 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.[] Conclusions: There is genetic heterogeneity in autosomal dominant optic atrophy, because the third family did not map to any known locus.[] Visual impairment Impaired vision Loss of eyesight Poor vision The OPA1 protein is located in the mitochondria.[]

  • 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[] Epilepsy is a phenotypically and genetically highly heterogeneous disorder with 200 genes linked to inherited forms of the disease.[] The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction.[]

  • 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[] Most WS patients carry mutations in this gene, but some studies provided evidence for genetic heterogeneity, and the genotype-phenotype relationships are not clear.[] This is further evidence of the genetic heterogeneity of diabetes mellitus.[]

  • 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.[] This study was conducted to further characterize genetic heterogeneity in families affected by LINCL.[] 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).[]

  • 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[] Abstract Sensorineural hearing loss is genetically heterogeneous.[] Usher syndrome 1G (USH1G) [MIM:606943]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness.[]

  • Glaucoma

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

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