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863 Possible Causes for Genetic Heterogeneity, Visual Acuity Decreased

  • Autosomal Dominant Optic Atrophy

    Visual acuity decreased with decreasing GC-IPL thickness (p 0.0006 in c.983A G and p 0.0084 in c.2708_2711delTTAG).[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] It is a childhood onset disorder typically characterized by a progressive loss in central vision, color vision deficits (dyschromatopsia), decreased visual acuity, decreased[egl-eurofins.com]

  • Hereditary Spastic Paraplegia

    HSP is a clinically and genetically heterogeneous neurodegenerative disorder characterized by degeneration of the corticospinal tract motor neurons and resulting in progressive[ncbi.nlm.nih.gov] The clinical variability observed in HSP is supported by the large underlying genetic heterogeneity.[ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP.[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 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] 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] The disorder is clinically and genetically heterogeneous.[ncbi.nlm.nih.gov]

  • Oculomotor Apraxia

    Two weeks later, when the patient was on prednisolone 0,5 mg/kg/day, he complained of decreased visual acuity of the left eye.[hindawi.com] Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination.[ncbi.nlm.nih.gov] Abstract Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases.[ncbi.nlm.nih.gov]

  • Exudative Vitreoretinopathy Type 2

    visual acuity.[ncbi.nlm.nih.gov] 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] Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina, often accompanied[ncbi.nlm.nih.gov]

  • Refsum Disease

    visual acuity appear.[refsumdisease.org] Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work[ncbi.nlm.nih.gov] heterogeneity in Refsum disease.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Optic Atrophy and Cataract

    acuity Decreased clarity of vision 0007663 Tremor Tremors 0001337 Showing of 34 Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can often be challenging[rarediseases.info.nih.gov] No evidence of genetic heterogeneity in dominant optic atrophy. 1995; J.Med.Genet. 32: 951-953. Goto Top Brown,M.D., Sun,F., and Wallace,D.C.[retina-international.org] Her visual acuity first decreased before the age of 10. At age 13, the visual acuity was 3/10 and 9/10 in the right and left eyes, respectively.[jmg.bmj.com]

  • Diabetes Mellitus

    In the T2DM group, the correlations between the above parameters and best-corrected visual acuity (BCVA) were assessed.[ncbi.nlm.nih.gov] […] which raises the question of genetic heterogeneity predisposing to this form of the disease.[doi.org] Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    Symptoms of retinal detachment: visual field loss, photopsia, floaters, decreased vistual acuity.[eyewiki.aao.org] We previously localized the SJS1 locus to chromosome 1p34-p36.1 and found no evidence of genetic heterogeneity.[ncbi.nlm.nih.gov] Since evidence for genetic heterogeneity of SJS exists we also recommend incremental doses of a rapidly acting NDMR with continuous monitoring of neuromuscular function so[ncbi.nlm.nih.gov]

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