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10 Possible Causes for Initial Disturbance of Central Vision, Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy Type 15
  • Cone Rod Dystrophy Type 19
  • Olfactory Neuroblastoma

    In the next couple of years, she developed visual disturbances in her left eye, initially as ‘zig-zag’ lights and impairment of central vision, which rapidly progressed to[jmedicalcasereports.com]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa 32

    RP is characterised by progressive loss of vision, initially manifesting as night blindness and reduction in the peripheral visual field, and later involving loss of central[jmg.bmj.com] vision. 1 Ophthalmoscopic examination typically shows pigmentary disturbances of the mid-peripheral retina.[jmg.bmj.com]

    Missing: Mutation in the TTLL5 Gene
  • Amaurotic Familial Idiocy

    Visual disturbance was the only initial symptom except for patients 3, 5 and 6 where slight mental deviations had also occurred.[docslide.net] Characteristically the disease makes its debut with complaints related to central vision. The age of onset in our patients was 31/n to 7 years.[docslide.net]

    Missing: Mutation in the TTLL5 Gene
  • Intestinal Botulism

    It initially affects the nerves in the skull and may cause blurred vision, difficulty swallowing, double vision, stammering or stuttering, vocal disturbance, drooping eyelids[ecdc.europa.eu] Factsheet Symptoms Botulism causes paralysis by affecting the nerves which allow the brain to stimulate muscles and part of the central nervous system.[ecdc.europa.eu]

    Missing: Mutation in the TTLL5 Gene
  • Peripheral Cone Dystrophy

    Molecular validation of the candidate variants The novel mutation in the TTLL5 gene (c.182–3_182–1delinsAA) was validated using conventional Sanger sequencing according to[molvis.org] […] and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. ( 29057815 ) El Shamieh S....Zeitz C. 2017 15 Novel splice-site mutation in TTLL5 causes cone[malacards.org] However, no disease-causing mutations in the genes underlying icCSNB were identified.[molvis.org]

    Missing: Initial Disturbance of Central Vision
  • Retinal Dystrophy

    Our study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these[ncbi.nlm.nih.gov]

    Missing: Initial Disturbance of Central Vision
  • Clostridium Botulinum

    It initially affects the nerves in the skull and may cause blurred vision, difficulty swallowing, double vision, stammering or stuttering, vocal disturbance, drooping eyelids[ecdc.europa.eu] Factsheet Symptoms Botulism causes paralysis by affecting the nerves which allow the brain to stimulate muscles and part of the central nervous system.[ecdc.europa.eu]

    Missing: Mutation in the TTLL5 Gene
  • Retinal Cone Dystrophy Type 3B

    CNNM4 was also excluded from the list of targeted genes since mutations in this gene are distinctively associated with amelogenesis imperfecta as part of Jalili syndrome [[ojrd.biomedcentral.com] In addition, the implication of three novel genes C21Orf2 [ 28 ], RAB28 [ 29 ] and TTLL5 [ 30 ] in CCRD were identified and published after the design of the panel and consequently[ojrd.biomedcentral.com]

    Missing: Initial Disturbance of Central Vision

Further symptoms