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32 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Relative or Absolute Central Scotoma

  • Cone Rod Dystrophy
  • Retinal Dystrophy

    […] dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium.[icd10data.com] 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] […] and absolute central scotoma, inferior worse than superior quadrants, FS P13/M/52/63 RE Initially no symptoms, 6 y later VA , paracentral scotoma 20/25 20/25 Confluent RPE[iovs.arvojournals.org]

  • Peripheral Vasoproliferative Retinopathy

    The most characteristic ophthalmoscopic findings are narrowing of the retinal arterioles, mottling of the retinal pigment epithelium, and peripheral retinal pigment clumping[oculist.net] , referred to as "bone-spicule formation" (Figure 10-19).[oculist.net] The hallmark symptoms of retinitis pigmentosa are night blindness (nyctalopia) and gradually progressive peripheral visual field loss.[oculist.net]

    Missing: Mutation in the TTLL5 Gene Relative or Absolute Central Scotoma
  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    Visual fields demonstrate absolute scotomas in areas of peripheral schisis, because the neural chain of information is interrupted.[medtextfree.wordpress.com] A relative central scotoma also is seen. Dark adaptation is normal or only minimally affected in X-linked retinoschisis. There are no known systemic associations.[medtextfree.wordpress.com]

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

    The next most common visual field defect is the relative or absolute inferior altitudinal; other optic disc-related field defects (central scotoma, etc) are less common ([intechopen.com] The most common visual field defect in NA-AION is an inferior nasal sectoral defect, which is relative or absolute.[intechopen.com]

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

    Visual field defects are typically central or cecocentral absolute scotomas surrounded by a narrow rim of relative scotoma.[ifond.org] Pupillary light responses are relatively preserved in comparison with those in patients with other optic neuropathies [Wakakura and Yokoe 1995].[ifond.org]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Neuronal Ceroid Lipofuscinosis 4B

    Infantile and late-infantile retinal findings include fine retinal pigment epithelium pigment atrophy with no bone spicule changes and disk pallor.[journals.lww.com] Juvenile retinal findings include macular retinal pigment epithelium atrophy and pigment stippling ( 50%), epiretinal membrane (33%), bull’s eye maculopathy (25%), and peripheral[journals.lww.com] bone spicules (46%) and variable disk pallor.[journals.lww.com]

    Missing: Mutation in the TTLL5 Gene Relative or Absolute Central Scotoma
  • Goldmann-Favre Syndrome

    […] in the mid-peripheral fundus with little or no evidence of bone spicule formation. 4 This pattern of pigmentation occurs in retinitis pigmentosa (RP) with preserved para-arteriolar[bjo.bmj.com] Key features include “bone-spiculepigment clumping, thinning and atrophy of the retinal pigment epithelium in the mid- and far-peripheral retina, relative preservation of[healio.com] […] retinal pigment epithelium (PPRPE), 5 enhanced S-cone syndrome (ESCS), and GFS, and these disorders share common mutations in the NR2E3 gene, which is involved in retinal[bjo.bmj.com]

    Missing: Mutation in the TTLL5 Gene Relative or Absolute Central Scotoma
  • Congenital Optic Disc Coloboma

    Bridging retinal elements were proposed to explain why an absolute scotoma is not produced by the schisis-like elevation ( 14 , 20 ).[entokey.com] Central field loss associated with pure retinoschisis is relatively mild, presumably because many neural pathways remain intact ( 21 ).[entokey.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Coloboma of Optic Papilla

    Bridging retinal elements were proposed to explain why an absolute scotoma is not produced by the schisis-like elevation ( 14, 20 ).[entokey.com] Central field loss associated with pure retinoschisis is relatively mild, presumably because many neural pathways remain intact ( 21 ).[entokey.com]

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