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74 Possible Causes for Marked Macular Degeneration, Mild Peripheral Retinal Pigmentary Changes, Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy Type 15
  • Cone Rod Dystrophy Type 8
    Missing: Mutation in the TTLL5 Gene
  • Retinal Pigmentary Dystrophy

    Macular abnormalities include loss of foveal reflex, “bull’s-eye” maculopathy and macular orange pigment deposition. 11,12 Mid-peripheral retinal pigmentary changes range[reviewofophthalmology.com] Macular involvement is rare but cystoid macular edema [6], pigmentary macular degeneration, macular RPE atrophy and lamellar macular holes have been reported.[eyewiki.org] […] from “bone spicule” pigmentary clumping to mild focal deposits. 13 Secondary optic nerve atrophy and vascular attenuation are also common findings. 13 A recent study found[reviewofophthalmology.com]

    Missing: Mutation in the TTLL5 Gene
  • Peripheral Cone Dystrophy

    Macular abnormalities include loss of foveal reflex, “bull’s-eye” maculopathy and macular orange pigment deposition. 11,12 Mid-peripheral retinal pigmentary changes range[reviewofophthalmology.com] 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] Currently, there are no published guidelines to prognosticate STGD macular degeneration.[retinatoday.com]

  • 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: Mild Peripheral Retinal Pigmentary Changes Mutation in the TTLL5 Gene
  • Norrie Disease

    One individual had only mild peripheral retinal pigmentary changes with normal vision at the age of 79 years.[ncbi.nlm.nih.gov] The proband presented with a unilateral subtotal retinal detachment at the age of 3 years, and subsequently developed a slowly progressive tractional retinal detachment involving[ncbi.nlm.nih.gov]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 Gene
  • 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: Mild Peripheral Retinal Pigmentary Changes Mutation in the TTLL5 Gene
  • 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: Mild Peripheral Retinal Pigmentary Changes Mutation in the TTLL5 Gene
  • 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: Mild Peripheral Retinal Pigmentary Changes Mutation in the TTLL5 Gene
  • Ocular Albinism

    Mild peripheral retinal pigmentary changes are not a definite indication of carrier status and in 45 age matched female controls five (11%) had similar changes.[ncbi.nlm.nih.gov] Ten (16%) had mild peripheral retinal pigmentary changes so that it was difficult to exclude the carrier state; six of these females were shown to be at low risk and only[ncbi.nlm.nih.gov] Twenty nine (47%) had definite fundus changes of the carrier state with a mud splattered fundus appearance and 23 (37%) had a normal ophthalmic examination.[ncbi.nlm.nih.gov]

    Missing: Marked Macular Degeneration Mutation in the TTLL5 Gene