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489 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Central Scotoma, Mutation in the TTLL5 Gene

  • Cone Rod Dystrophy Type 15
  • Leber Congenital Amaurosis

    Bujakowska et al[ 81 ] reported two patterns of fundus pigmentation in their cohort: a typical bone spicule-shaped pigment migration within the peripheral retinal, and clumped[wjgnet.com] […] by an enlarging central scotoma.[patient.info] Preservation of the para-arteriolar retinal pigment epithelium, retinal telangiectasia with exudation (Coat’s-like vasculopathy), and macular lesions as coloboma-like lesions[wjgnet.com]

    Missing: Mutation in the TTLL5 Gene
  • Macular Degeneration

    Head Mounted Eye Tracking Aide for Loss of Central Vision (HETALCEV) Participants with bilateral central scotomas will be selected for this study during their routine clinical[centerwatch.com] […] vision (central scotoma) that will get bigger without treatment Symptoms appear and progress more rapidly than with dry AMD.[medicalnewstoday.com] If the are to be treated involves the central macula, a large grey spot will result in the central vision. This “scotoma” is permanent.[retinaeyedoctor.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Glaucoma

    This study aimed to determine the association between advanced glycation end products (AGEs) and glaucoma based on the known synergism between oxidative stress with AGEs and the evidence of oxidative stress during glaucomatous neurodegeneration. The extent and cellular localization of immunolabeling for AGEs and[…][ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Pernicious Anemia

    Visual field examination by perimetry demonstrates a central or cecocentral scotoma.[ispub.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Toxic Amblyopia

    An initially small central or pericentral scotoma slowly enlarges, typically involving both the fixation and the blind spot (centrocecal scotoma), and progressively interferes[merckmanuals.com] On examination, the patient has bilaterally symmetrical central, centrocecal, or paracentral scotoma.[notesread.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Occlusion of the Ophthalmic Artery

    BMC Ophthalmol. 2017 Jun 15;17(1):92. doi: 10.1186/s12886-017-0490-7. Author information 1 Department of Ophthalmology, Universiti Kebangsaan Malaysia Medical Center, Jalan Yaacob Latiff, 56000, Kuala Lumpur, Malaysia. 2 Department of Otorhinolaryngology, Universiti Kebangsaan Malaysia Medical Center, Jalan Yaacob Latiff,[…][ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Leber's Hereditary Optic Neuropathy

    The central scotoma gradually improved, and the visual acuity had recovered to 0.3 in August 2007.[ncbi.nlm.nih.gov] However, many patients will continue to expand the size of their central scotoma which, over a period of years, produces a more profound level of blindness.[orpha.net] These patients' pattern of visual recovery by developing small islands of normal vision within a central scotoma is characteristic in such rare cases of LHON.[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Papilledema

    […] fields still showed persistent but incomplete binasal central scotomas.[surgicalneurologyint.com] In the left eye, there was a dense central scotoma and severe generalized depression.[jamanetwork.com] scotoma should raise a red flag that this is not papilledema.[e-tjo.org]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Autosomal Dominant Optic Atrophy

    Early loss of inferior temporal RNFL in ADOA is related to superotemporal central scotoma.[ncbi.nlm.nih.gov] Humphrey visual field test shows cecocentral scotoma in right eye and central scotoma in left eye.[eyewiki.aao.org] As the primary pathology is the papillomacular bundle, central, centrocecal and paracentral scotomas are the most common visual field defects.[eyewiki.aao.org]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene

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