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71 Possible Causes for Marked Macular Degeneration, Mutation in the TTLL5 Gene, Severely Reduced Rod Responses on Electroretinography

  • Cone Rod Dystrophy Type 15
  • Peripheral Neuropathy

    Patient no. 24, the father of Patient no. 23, exhibited a relatively severe phenotype with delay and reduced amplitude throughout the ERGs, except for a subnormal Rod response[nature.com] Table 1 Mutations and phenotype of each patient Table 2 Chromosomal abnormalities and phenotype of each patient Figure 1 Electroretinographies of the patients (Patient no.[nature.com]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Pterygium

    Age-related macular degeneration is a chronic eye disease marked by deterioration of tissue in the part of your eye that's responsible for central vision.[marylandeyedocs.com]

    Missing: Mutation in the TTLL5 Gene Severely Reduced Rod Responses on Electroretinography
  • Macular Degeneration

    Macular degeneration is deterioration in the central area of the retina, called the macula, said Dr.[livescience.com] Mark Fromer, an ophthalmologist and retina specialist at Lenox Hill Hospital, in New York City.[livescience.com]

    Missing: Mutation in the TTLL5 Gene Severely Reduced Rod Responses on Electroretinography
  • Uveitis

    Morland, Mark W. Greenlee and Frans W. Cornelissen, Morphometric analyses of the visual pathways in macular degeneration, Cortex, 56, (99), (2014).[doi.org]

    Missing: Mutation in the TTLL5 Gene Severely Reduced Rod Responses on Electroretinography
  • Congenital Dyserythropoietic Anemia

    Additional findings include retinal angioid streaks, macular degeneration, and monoclonal gammopathy with or without multiple myeloma.[ncbi.nlm.nih.gov] The most marked anomaly in the bone marrow is the presence of giant multinucleated erythroblasts with up to 12 nuclei per cell.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TTLL5 Gene Severely Reduced Rod Responses on Electroretinography
  • Cryopyrin-Associated Periodic Syndrome

    Patient no. 24, the father of Patient no. 23, exhibited a relatively severe phenotype with delay and reduced amplitude throughout the ERGs, except for a subnormal Rod response[nature.com] Table 1 Mutations and phenotype of each patient Table 2 Chromosomal abnormalities and phenotype of each patient Figure 1 Electroretinographies of the patients (Patient no.[nature.com]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Cone Rod Dystrophy Type 8
    Missing: Mutation in the TTLL5 Gene Severely Reduced Rod Responses on Electroretinography
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    It was pathological, with reduced rod and cone responses, in five patients, subnormal in four and was related to poor clinical metabolic control and severe neonatal symptoms[portal.research.lu.se] Repeated electroretinographies revealed reduced function with increasing age.[portal.research.lu.se] Electroretinography was performed on 11 of the 12 patients.[portal.research.lu.se]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • Vitreous Degeneration

    The central visual loss that marks macular degeneration can make reading, working with the hands, driving, or recognizing people's faces difficult because the center of the[medical-dictionary.thefreedictionary.com]

    Missing: Mutation in the TTLL5 Gene Severely Reduced Rod Responses on Electroretinography